Variant report

Variant	rs2288884
Chromosome Location	chr19:52532271-52532272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr19:52531232-52532293	GM12878	blood:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
2	POLR2A	chr19:52530867-52532395	IMR90	lung:	n/a	n/a
3	POLR2A	chr19:52531217-52532279	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr19:52531431-52532358	H1-hESC	embryonic stem cell:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
5	TBP	chr19:52531291-52532342	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:52531262-52532306	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr19:52531552-52532345	GM12878	blood:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
8	POLR2A	chr19:52531144-52532309	GM12892	blood:	n/a	n/a
9	MYBL2	chr19:52531302-52532289	HepG2	liver:	n/a	n/a
10	RUNX3	chr19:52531299-52532342	GM12878	blood:	n/a	n/a
11	FOS	chr19:52531551-52532345	MCF10A-Er-Src	breast:	n/a	chr19:52531748-52531758 chr19:52531748-52531758 chr19:52531748-52531758
12	POLR2A	chr19:52531174-52532293	GM12878	blood:	n/a	n/a
13	MXI1	chr19:52530463-52532650	SK-N-SH	brain:	n/a	n/a
14	CREB1	chr19:52531125-52532283	GM12878	blood:	n/a	n/a
15	TAF1	chr19:52531230-52532343	H1-neurons	neurons:	n/a	n/a
16	YY1	chr19:52531264-52532315	GM12878	blood:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
17	ATF1	chr19:52531294-52532287	K562	blood:	n/a	n/a
18	POLR2A	chr19:52531141-52532303	Hela-S3	cervix:	n/a	n/a
19	YY1	chr19:52531452-52532322	GM12892	blood:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
20	POLR2A	chr19:52531230-52532315	U87	brain:	n/a	n/a
21	POLR2A	chr19:52531008-52532319	MCF10A-Er-Src	breast:	n/a	n/a
22	YY1	chr19:52531243-52532424	SK-N-SH	brain:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
23	POLR2A	chr19:52531367-52532405	K562	blood:	n/a	n/a
24	CHD1	chr19:52531131-52532394	H1-hESC	embryonic stem cell:	n/a	n/a
25	MXI1	chr19:52530178-52532746	IMR90	lung:	n/a	n/a
26	TAF1	chr19:52531101-52532399	H1-hESC	embryonic stem cell:	n/a	n/a
27	REST	chr19:52530854-52532603	H1-neurons	neurons:	n/a	chr19:52531910-52531930 chr19:52531911-52531929
28	POLR2A	chr19:52531194-52532346	H1-neurons	neurons:	n/a	n/a
29	YY1	chr19:52531201-52532275	HepG2	liver:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
30	YY1	chr19:52531198-52532369	SK-N-SH_RA	brain:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
31	YY1	chr19:52531264-52532572	SK-N-SH	brain:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
32	POLR2A	chr19:52531072-52532404	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr19:52531145-52532301	HepG2	liver:	n/a	n/a
34	YY1	chr19:52531268-52532276	SK-N-SH_RA	brain:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
35	POLR2A	chr19:52531169-52532326	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:52531166-52532383	H1-neurons	neurons:	n/a	n/a
37	HCFC1	chr19:52530820-52532518	Hela-S3	cervix:	n/a	n/a
38	MXI1	chr19:52531480-52532494	K562	blood:	n/a	n/a
39	JUND	chr19:52531226-52532413	H1-hESC	embryonic stem cell:	n/a	chr19:52531748-52531758 chr19:52531748-52531758 chr19:52531748-52531758
40	YY1	chr19:52531186-52532358	A549	lung:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
41	CHD2	chr19:52531206-52532296	GM12878	blood:	n/a	n/a
42	POLR2A	chr19:52531148-52532327	GM12891	blood:	n/a	n/a
43	MAX	chr19:52532134-52532314	H1-hESC	embryonic stem cell:	n/a	n/a
44	RUNX3	chr19:52531329-52532319	GM12878	blood:	n/a	n/a
45	YY1	chr19:52531304-52532351	ECC-1	luminal epithelium:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
46	YY1	chr19:52531350-52532297	H1-hESC	embryonic stem cell:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
47	SIN3A	chr19:52531061-52532280	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr19:52531149-52532548	U87	brain:	n/a	n/a
49	YY1	chr19:52531288-52532301	GM12892	blood:	n/a	chr19:52531860-52531870 chr19:52531853-52531872 chr19:52531722-52531744 chr19:52531848-52531870 chr19:52531859-52531867 chr19:52531861-52531869 chr19:52531865-52531874 chr19:52531926-52531934 chr19:52531925-52531947 chr19:52531858-52531870
50	POLR2A	chr19:52531149-52532508	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:52510030..52514111-chr19:52530123..52532651,4	MCF-7	breast:
2	chr19:52530143..52532908-chr19:52641672..52644028,3	K562	blood:
3	chr19:52527946..52533480-chr19:52550519..52554398,10	K562	blood:
4	chr19:52430544..52433157-chr19:52531061..52533014,2	K562	blood:
5	chr19:52510456..52516006-chr19:52524444..52533479,8	K562	blood:
6	chr19:52530218..52533559-chr19:52550553..52554398,9	K562	blood:
7	chr19:52429274..52431583-chr19:52530838..52533041,2	MCF-7	breast:
8	chr19:52531069..52533079-chr19:52641880..52643569,2	K562	blood:

Variant related genes	Relation type
ZNF614	TF binding region
ENSG00000204611	Chromatin interaction
ENSG00000176024	Chromatin interaction
ENSG00000256087	Chromatin interaction
ENSG00000197619	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10164294	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10164297	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10411428	0.82[GIH][hapmap];1.00[TSI][hapmap]
rs11084131	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11084132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11084137	0.94[ASN][1000 genomes]
rs11084141	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11084142	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11665783	0.93[ASN][1000 genomes]
rs11666341	1.00[TSI][hapmap]
rs11667001	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11668885	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11669540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11671702	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11671792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11673286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11673398	0.98[ASN][1000 genomes]
rs11673450	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12459762	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12460118	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12460587	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12460617	0.98[ASN][1000 genomes]
rs12460658	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12462359	0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.98[ASN][1000 genomes]
rs12462876	0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs12609219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12611112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1433089	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17779301	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17779439	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17835716	0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.98[ASN][1000 genomes]
rs17835749	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2043298	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2278414	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs28379522	0.98[ASN][1000 genomes]
rs3450	0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.97[ASN][1000 genomes]
rs35135782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3752119	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3752120	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56808319	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58112450	0.95[ASN][1000 genomes]
rs58243732	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58329304	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58715071	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58817690	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59104696	0.97[ASN][1000 genomes]
rs59667666	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60193983	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60500787	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60720536	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61574510	0.97[ASN][1000 genomes]
rs6509619	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71335629	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7253849	0.94[ASN][1000 genomes]
rs7258261	0.98[ASN][1000 genomes]
rs7258471	0.97[ASN][1000 genomes]
rs9636142	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9636143	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
2	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
3	esv34938	chr19:52227916-52630935	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv1061029	chr19:52249900-52614747	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	esv2757699	chr19:52259571-52604625	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	esv2751797	chr19:52259588-52604625	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv1061100	chr19:52259839-52617390	Strong transcription Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv1060519	chr19:52270087-52628611	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv579998	chr19:52270942-52613105	Strong transcription Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	nsv1056146	chr19:52271018-52617390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv1057485	chr19:52271309-52614747	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv870043	chr19:52271348-52619860	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv534202	chr19:52272356-52627403	Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv1059263	chr19:52273257-52607771	ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv1057290	chr19:52273257-52614747	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
16	nsv1064732	chr19:52273257-52617390	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
17	nsv1059924	chr19:52273257-52628611	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
18	nsv1057217	chr19:52283498-52617132	Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
19	nsv1062154	chr19:52283498-52617390	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
20	nsv1060988	chr19:52283498-52621644	Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	nsv1058292	chr19:52284671-52614747	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
22	nsv1063940	chr19:52284671-52617390	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
23	esv2751798	chr19:52285788-52604625	ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
24	esv2751799	chr19:52285788-52604625	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
25	esv2751800	chr19:52285788-52604625	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
26	esv2751801	chr19:52285788-52604625	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
27	esv34502	chr19:52285829-52604625	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
28	nsv458734	chr19:52287452-52601399	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
29	nsv579999	chr19:52287452-52601399	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
30	nsv458735	chr19:52287452-52607765	Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
31	nsv458736	chr19:52287452-52607765	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
32	nsv580000	chr19:52287452-52607765	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
33	nsv1055523	chr19:52288763-52578312	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
34	nsv544055	chr19:52288763-52578312	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
35	nsv916346	chr19:52288798-52578302	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
36	nsv1059596	chr19:52295063-52553755	ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
37	nsv544057	chr19:52295063-52553755	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
38	nsv1064316	chr19:52295063-52593062	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
39	nsv544058	chr19:52295063-52593062	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
40	nsv580002	chr19:52304146-52617298	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
41	nsv458737	chr19:52306547-52601399	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
42	nsv580003	chr19:52306547-52601399	Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
43	nsv458738	chr19:52306547-52621644	Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
44	nsv580004	chr19:52306547-52621644	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
45	nsv531306	chr19:52327602-52616696	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
46	esv2758505	chr19:52346092-52533826	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
47	nsv534124	chr19:52368797-52616696	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
48	nsv833872	chr19:52431787-52619024	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
49	nsv1059138	chr19:52467700-52593062	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
50	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Bronchodilator response in asthma (inhaled corticosteroid treatment interaction)	24280104	GWAS catalog

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2288884	ZNF417	cis	cerebellum	SCAN
rs2288884	ZNF614	Cis_1M	lymphoblastoid	RTeQTL
rs2288884	ZNF432	cis	Thyroid	GTEx
rs2288884	ZNF841	trans	parietal	SCAN
rs2288884	VSTM1	cis	cerebellum	SCAN
rs2288884	ZNF816	cis	parietal	SCAN
rs2288884	ZNF304	cis	parietal	SCAN
rs2288884	ZNF577	trans	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52515400-52546400	ZNF genes & repeats	Liver	Liver
2	chr19:52529400-52533000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:52530000-52532600	Active TSS	Fetal Lung	lung
4	chr19:52530000-52533000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:52530200-52532600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:52530400-52532400	Active TSS	Brain Angular Gyrus	brain
7	chr19:52530400-52532400	Active TSS	Colonic Mucosa	Colon
8	chr19:52530400-52532400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr19:52530400-52532600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr19:52530400-52532800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:52530600-52532400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr19:52530600-52532400	Active TSS	Aorta	Aorta
13	chr19:52530600-52532400	Active TSS	Left Ventricle	heart
14	chr19:52530600-52532400	Active TSS	Psoas Muscle	Psoas
15	chr19:52530600-52532600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:52530600-52532600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr19:52530800-52532400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr19:52530800-52532400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr19:52530800-52532400	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr19:52530800-52532400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:52530800-52532400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:52530800-52532400	Active TSS	Colon Smooth Muscle	Colon
23	chr19:52530800-52532400	Active TSS	Fetal Muscle Trunk	muscle
24	chr19:52530800-52532400	Active TSS	Fetal Stomach	stomach
25	chr19:52530800-52532400	Active TSS	Ovary	ovary
26	chr19:52530800-52532400	Active TSS	Right Ventricle	heart
27	chr19:52530800-52532600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:52530800-52532600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:52530800-52532600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr19:52530800-52532600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:52530800-52532600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:52530800-52532600	Active TSS	Brain Hippocampus Middle	brain
33	chr19:52530800-52532600	Active TSS	Fetal Brain Female	brain
34	chr19:52530800-52532600	Active TSS	HSMMtube	muscle
35	chr19:52530800-52532600	Active TSS	NHLF	lung
36	chr19:52530800-52532800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:52530800-52532800	Active TSS	HMEC	breast
38	chr19:52531000-52532400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:52531000-52532400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:52531000-52532400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:52531000-52532400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:52531000-52532400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr19:52531000-52532400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr19:52531000-52532400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:52531000-52532400	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr19:52531000-52532400	Active TSS	Fetal Intestine Small	intestine
47	chr19:52531000-52532400	Active TSS	Fetal Muscle Leg	muscle
48	chr19:52531000-52532400	Active TSS	Fetal Thymus	thymus
49	chr19:52531000-52532400	Active TSS	Placenta Amnion	Placenta Amnion
50	chr19:52531000-52532400	Active TSS	Skeletal Muscle Male	skeletal muscle

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