Variant report

Variant	rs4514789
Chromosome Location	chr19:52365654-52365655
allele	C/T
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	ZNF274	chr19:52364562-52366601	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA3	chr19:52364874-52365688	A549	lung:	n/a	chr19:52365163-52365174
3	ZNF274	chr19:52365226-52365814	Hela-S3	cervix:	n/a	n/a
4	SETDB1	chr19:52364790-52366497	K562	blood:	n/a	n/a
5	KAP1	chr19:52364839-52365991	K562	blood:	n/a	chr19:52365337-52365346 chr19:52365059-52365067
6	ZNF274	chr19:52364334-52366509	GM08714	blood:	n/a	n/a
7	ZNF274	chr19:52364794-52366385	HepG2	liver:	n/a	n/a
8	KAP1	chr19:52365111-52365767	U2OS	brain:	n/a	chr19:52365337-52365346
9	TRIM28	chr19:52365184-52365669	K562	blood:	n/a	chr19:52365337-52365346
10	TCF12	chr19:52364829-52365962	A549	lung:	n/a	n/a
11	ZNF274	chr19:52364545-52366545	NT2-D1	testis:	n/a	n/a
12	TCF7L2	chr19:52365228-52365679	PANC-1	pancreas:	n/a	chr19:52365440-52365450 chr19:52365338-52365347 chr19:52365440-52365449 chr19:52365436-52365452 chr19:52365437-52365451 chr19:52365436-52365452 chr19:52365439-52365448
13	ZNF274	chr19:52364567-52368155	K562	blood:	n/a	n/a
14	ZNF143	chr19:52364925-52365822	H1-hESC	embryonic stem cell:	n/a	n/a
15	KAP1	chr19:52364825-52366229	HEK293	kidney:	n/a	chr19:52365337-52365346 chr19:52365059-52365067
16	ZNF274	chr19:52364733-52366456	K562	blood:	n/a	n/a
17	SETDB1	chr19:52364771-52366117	U2OS	brain:	n/a	n/a
18	ZNF274	chr19:52364810-52366133	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:52357027..52358748-chr19:52365567..52367479,2	K562	blood:
2	chr19:52361587..52364557-chr19:52365184..52368102,3	K562	blood:
3	chr19:52351131..52353824-chr19:52364470..52367070,2	K562	blood:

Variant related genes	Relation type
ZNF577	TF binding region
ENSG00000161551	Chromatin interaction

Extended variants
information (count: 170 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10401778	0.84[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs10402107	0.80[ASN][1000 genomes]
rs10402630	0.80[ASN][1000 genomes]
rs10402727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10402988	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10403189	0.84[CHB][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap]
rs10409331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10409522	0.95[ASN][1000 genomes]
rs10409526	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10409620	0.89[ASW][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10411161	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412080	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10414104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421731	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10423844	0.95[ASN][1000 genomes]
rs10424176	0.95[ASN][1000 genomes]
rs10424471	0.94[ASN][1000 genomes]
rs1055408	0.83[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1056294	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs11665778	0.96[ASN][1000 genomes]
rs11669509	0.96[ASN][1000 genomes]
rs11671807	0.95[ASN][1000 genomes]
rs11672786	0.97[ASN][1000 genomes]
rs11878580	0.88[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs11878583	0.84[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs11878586	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs11879319	0.84[CHB][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs11879336	0.89[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11879436	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs11883230	0.95[ASN][1000 genomes]
rs11883265	0.94[ASN][1000 genomes]
rs12150982	0.84[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs12151287	0.93[ASN][1000 genomes]
rs12151288	0.94[ASN][1000 genomes]
rs13382098	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1433081	0.85[JPT][hapmap]
rs1433082	0.85[JPT][hapmap]
rs16983196	0.80[ASN][1000 genomes]
rs16983200	0.89[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs17778649	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17778790	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs17835311	0.84[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2191669	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2215518	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2288868	0.84[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs28409083	0.81[ASN][1000 genomes]
rs2867318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2903547	0.80[ASN][1000 genomes]
rs3752121	0.95[ASN][1000 genomes]
rs3752122	0.95[ASN][1000 genomes]
rs3752123	0.95[ASN][1000 genomes]
rs3752124	0.95[ASN][1000 genomes]
rs3764540	0.84[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3848561	0.94[ASN][1000 genomes]
rs3848562	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4584941	0.89[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.90[TSI][hapmap];0.80[ASN][1000 genomes]
rs56406030	0.94[ASN][1000 genomes]
rs56705839	0.81[ASN][1000 genomes]
rs58120918	0.81[ASN][1000 genomes]
rs59305384	0.80[ASN][1000 genomes]
rs62107503	0.97[ASN][1000 genomes]
rs6509575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6509576	0.95[ASN][1000 genomes]
rs6509577	0.95[ASN][1000 genomes]
rs6509578	0.95[ASN][1000 genomes]
rs6509579	0.95[ASN][1000 genomes]
rs6509580	0.95[ASN][1000 genomes]
rs6509581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6509582	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6509583	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509584	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509585	0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6509591	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs6509592	0.84[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap]
rs67462252	0.80[ASN][1000 genomes]
rs7247017	0.84[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap]
rs7249718	0.95[ASN][1000 genomes]
rs7250138	0.84[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs7250193	0.84[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs7251070	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7251571	0.84[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap]
rs7251689	0.84[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs7251755	0.80[ASN][1000 genomes]
rs7251929	0.86[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs7252303	0.80[ASN][1000 genomes]
rs7252336	0.84[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs7252849	0.93[ASN][1000 genomes]
rs7253396	0.95[ASN][1000 genomes]
rs7255208	0.95[ASN][1000 genomes]
rs7255924	0.95[ASN][1000 genomes]
rs7256036	0.93[ASN][1000 genomes]
rs7256792	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs72626249	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765009	0.97[ASN][1000 genomes]
rs765010	0.96[ASN][1000 genomes]
rs8100716	0.80[ASN][1000 genomes]
rs8100840	0.98[ASN][1000 genomes]
rs8102206	0.95[ASN][1000 genomes]
rs8104974	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8105241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106102	0.98[ASN][1000 genomes]
rs8106929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107969	0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs8108477	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8110073	0.80[ASN][1000 genomes]
rs8110461	0.80[ASN][1000 genomes]
rs8110531	0.80[ASN][1000 genomes]
rs8110546	0.84[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs8111316	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113216	0.98[ASN][1000 genomes]
rs8113388	0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs8113584	0.80[ASN][1000 genomes]
rs8113685	0.80[ASN][1000 genomes]
rs8113768	0.80[ASN][1000 genomes]
rs892039	0.84[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap]

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	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	nsv1065600	chr19:52295063-52500079	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers 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	25 gene(s)	inside rSNPs	diseases
38	nsv544056	chr19:52295063-52500079	Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Weak transcription 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	25 gene(s)	inside rSNPs	diseases
39	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
40	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
41	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
42	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
43	nsv580001	chr19:52301660-52517238	Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
44	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
45	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
46	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
47	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
48	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
49	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
50	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4514789	ZNF417	cis	parietal	SCAN
rs4514789	ZNF577	trans	cerebellum	SCAN
rs4514789	TMEM150B	cis	parietal	SCAN
rs4514789	ZNF577	trans	parietal	SCAN
rs4514789	ZNF649	cis	lymphoblastoid	seeQTL
rs4514789	ZNF583	cis	parietal	SCAN
rs4514789	ZNF677	cis	parietal	SCAN
rs4514789	ZNF577	cis	Muscle Skeletal	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52348800-52406800	ZNF genes & repeats	Liver	Liver
2	chr19:52356200-52384600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:52357400-52366200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:52357800-52407400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:52358000-52384200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr19:52358200-52384800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:52358200-52407400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr19:52358400-52372000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr19:52358600-52384400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr19:52358800-52385000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr19:52361200-52369200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:52361200-52382000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr19:52362000-52369000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:52363200-52386200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:52363400-52368800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr19:52363600-52366000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:52363600-52369000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr19:52363600-52369200	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr19:52363600-52369400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
20	chr19:52363600-52370000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:52364600-52367600	ZNF genes & repeats	Psoas Muscle	Psoas
22	chr19:52364800-52366600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr19:52364800-52367200	ZNF genes & repeats	Brain Substantia Nigra	brain
24	chr19:52364800-52368400	ZNF genes & repeats	Brain Anterior Caudate	brain
25	chr19:52364800-52369000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
26	chr19:52364800-52382000	ZNF genes & repeats	Dnd41	blood
27	chr19:52365000-52366200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:52365000-52366400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr19:52365000-52366400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
30	chr19:52365000-52366600	ZNF genes & repeats	Brain Angular Gyrus	brain
31	chr19:52365000-52366800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
32	chr19:52365200-52365800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr19:52365200-52366200	ZNF genes & repeats	Colon Smooth Muscle	Colon
34	chr19:52365200-52366400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:52365200-52366600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:52365200-52369400	ZNF genes & repeats	Fetal Lung	lung
37	chr19:52365200-52370400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:52365200-52382000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
39	chr19:52365400-52366600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
40	chr19:52365400-52366600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr19:52365400-52366600	ZNF genes & repeats	Fetal Heart	heart
42	chr19:52365400-52369200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:52365400-52369600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:52365400-52372000	ZNF genes & repeats	Ovary	ovary
45	chr19:52365600-52369000	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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