Variant report

Variant	rs2286920
Chromosome Location	chr19:20150075-20150076
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	JUN	chr19:20149936-20150277	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3AK20	chr19:20149746-20150530	PANC-1	pancreas:	n/a	n/a
3	MYC	chr19:20150053-20150201	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:20149801-20150439	ECC-1	luminal epithelium:	n/a	n/a
5	GABPA	chr19:20149843-20150264	HL-60	blood:	n/a	n/a
6	HEY1	chr19:20149854-20150080	HepG2	liver:	n/a	n/a
7	CTCF	chr19:20149896-20150476	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr19:20149904-20150401	HepG2	liver:	n/a	chr19:20150312-20150326 chr19:20150109-20150120
9	PBX3	chr19:20149781-20150754	SK-N-SH	brain:	n/a	chr19:20150427-20150436
10	SIN3AK20	chr19:20149895-20150331	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr19:20149788-20150525	PFSK-1	brain:	n/a	n/a
12	CREB1	chr19:20149860-20150645	HepG2	liver:	n/a	n/a
13	TBP	chr19:20150050-20150457	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:20149810-20150419	HepG2	liver:	n/a	n/a
15	ELK1	chr19:20150072-20150149	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:20149806-20150470	MCF-7	breast:	n/a	n/a
17	YY1	chr19:20149926-20150374	SK-N-SH_RA	brain:	n/a	chr19:20150312-20150326 chr19:20150109-20150120
18	ELF1	chr19:20149873-20150380	GM12878	blood:	n/a	chr19:20150160-20150171 chr19:20149989-20150001 chr19:20150161-20150170
19	NANOG	chr19:20149929-20150390	H1-hESC	embryonic stem cell:	n/a	chr19:20150300-20150314
20	REST	chr19:20149567-20150892	H1-neurons	neurons:	n/a	chr19:20149965-20149975 chr19:20150365-20150374 chr19:20150290-20150303
21	REST	chr19:20150010-20150352	SK-N-SH	brain:	n/a	chr19:20150290-20150303
22	POLR2A	chr19:20149876-20150424	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr19:20150031-20150355	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr19:20149852-20150457	GM15510	blood:	n/a	n/a
25	POLR2A	chr19:20149861-20150407	HUVEC	blood vessel:	n/a	n/a
26	PBX3	chr19:20149767-20150755	SK-N-SH	brain:	n/a	chr19:20150427-20150436
27	MAX	chr19:20149771-20150552	SK-N-SH	brain:	n/a	chr19:20150410-20150420
28	TAF7	chr19:20149802-20150460	H1-hESC	embryonic stem cell:	n/a	n/a
29	TAF1	chr19:20149631-20150580	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIN3AK20	chr19:20149984-20150368	PANC-1	pancreas:	n/a	n/a
31	MAX	chr19:20149822-20150540	H1-hESC	embryonic stem cell:	n/a	chr19:20150410-20150420
32	POLR2A	chr19:20149895-20150500	PANC-1	pancreas:	n/a	n/a
33	SIN3AK20	chr19:20149804-20150503	SK-N-SH	brain:	n/a	n/a
34	HNF4A	chr19:20149767-20150544	HepG2	liver:	n/a	chr19:20150278-20150293 chr19:20149837-20149850 chr19:20149836-20149851 chr19:20149838-20149850 chr19:20149836-20149851 chr19:20149836-20149851 chr19:20149838-20149850
35	POLR2A	chr19:20149955-20150443	GM12892	blood:	n/a	n/a
36	SP4	chr19:20150003-20150572	H1-hESC	embryonic stem cell:	n/a	chr19:20150329-20150345 chr19:20150405-20150421 chr19:20150407-20150423
37	POLR2A	chr19:20149828-20150488	MCF-7	breast:	n/a	n/a
38	GABPA	chr19:20149761-20150642	MCF-7	breast:	n/a	chr19:20150409-20150418
39	POLR2A	chr19:20149862-20150417	GM12878	blood:	n/a	n/a
40	SP1	chr19:20149986-20150615	HepG2	liver:	n/a	chr19:20150408-20150418 chr19:20150407-20150419 chr19:20150408-20150422 chr19:20150408-20150418 chr19:20150330-20150339 chr19:20150407-20150419 chr19:20150409-20150418 chr19:20150111-20150125 chr19:20150329-20150341 chr19:20150408-20150417 chr19:20150408-20150417 chr19:20150329-20150341
41	SIN3AK20	chr19:20149798-20150305	H1-hESC	embryonic stem cell:	n/a	n/a
42	SP1	chr19:20149840-20150712	H1-hESC	embryonic stem cell:	n/a	chr19:20150408-20150418 chr19:20150407-20150419 chr19:20150408-20150422 chr19:20150408-20150418 chr19:20150330-20150339 chr19:20150407-20150419 chr19:20150409-20150418 chr19:20150111-20150125 chr19:20150329-20150341 chr19:20150408-20150417 chr19:20150408-20150417 chr19:20150329-20150341
43	ELF1	chr19:20149973-20150285	HepG2	liver:	n/a	chr19:20150160-20150171 chr19:20149989-20150001 chr19:20150161-20150170
44	POLR2A	chr19:20149723-20150655	PFSK-1	brain:	n/a	n/a
45	MAX	chr19:20150051-20150305	GM12878	blood:	n/a	n/a
46	GABPA	chr19:20149879-20150213	H1-hESC	embryonic stem cell:	n/a	n/a
47	MYC	chr19:20150004-20150539	NB4	blood:	n/a	chr19:20150410-20150420
48	MYC	chr19:20149838-20150358	MCF-7	breast:	n/a	n/a
49	TAF1	chr19:20149937-20150120	PFSK-1	brain:	n/a	n/a
50	TCF3	chr19:20149847-20150261	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:20142180..20144378-chr19:20148043..20150229,2	MCF-7	breast:

Variant related genes	Relation type
ZNF682	TF binding region
ENSG00000268070	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10404484	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10407270	0.85[ASN][1000 genomes]
rs10408129	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10409512	0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10409614	0.87[ASN][1000 genomes]
rs10409629	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10410313	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10416812	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10418140	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10419467	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10420011	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10420124	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10420900	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423526	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10423976	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11085293	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11085294	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11085295	0.90[ASN][1000 genomes]
rs1121387	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1121388	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668688	0.89[ASN][1000 genomes]
rs11671950	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12463237	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12975130	0.90[ASN][1000 genomes]
rs12976158	0.90[ASN][1000 genomes]
rs12977326	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12983056	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12983683	0.90[ASN][1000 genomes]
rs1319479	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17767339	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860939	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860940	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1860941	0.81[YRI][hapmap]
rs1974649	0.87[ASN][1000 genomes]
rs1974650	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1974651	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1987408	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2017721	0.86[ASN][1000 genomes]
rs2041606	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2110124	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2110125	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2159921	0.90[ASN][1000 genomes]
rs2215721	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2286921	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335888	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2335889	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2335890	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2335892	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2335896	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335897	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs258575	0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2878552	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4563152	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4809023	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5013556	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6511066	0.87[CEU][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6511067	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6511069	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6511070	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6511071	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6511072	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6511073	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6511074	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6511075	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6511076	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71944124	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7246955	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247476	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247483	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247572	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7247818	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247843	0.83[ASN][1000 genomes]
rs7248117	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7248186	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7250923	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7251276	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7256046	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8101213	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8101367	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8103577	0.85[ASN][1000 genomes]
rs8103855	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104703	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104933	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8106259	0.80[EUR][1000 genomes]
rs8106847	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8107041	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8109906	0.83[ASN][1000 genomes]
rs8112738	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8182568	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9304964	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9304965	0.93[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs963380	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs993044	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS 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 miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv1061846	chr19:19946927-20595412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats 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 miRNA	47 gene(s)	inside rSNPs	diseases
5	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
6	nsv869122	chr19:19969851-20595412	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1057569	chr19:19973268-20193556	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
8	nsv1059158	chr19:19973489-20576161	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
9	nsv458376	chr19:20021046-20151257	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv578800	chr19:20021046-20151257	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv911319	chr19:20025940-20170214	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv870354	chr19:20043821-20576175	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS 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 miRNA	34 gene(s)	inside rSNPs	diseases
13	nsv1062018	chr19:20053658-20193556	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1066004	chr19:20053658-20592867	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
15	nsv543932	chr19:20053658-20592867	Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
16	nsv1066564	chr19:20056348-20595412	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
17	nsv1066375	chr19:20061084-20574512	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
18	nsv543934	chr19:20061084-20574512	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
19	esv3501977	chr19:20072180-20193556	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
20	esv3501978	chr19:20072180-20193556	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv1057309	chr19:20072886-20595412	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
22	nsv578801	chr19:20084681-20595412	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
23	nsv1055694	chr19:20088866-20595412	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
24	nsv578802	chr19:20091702-20595412	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
25	nsv1066970	chr19:20093894-20164335	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases
26	nsv1062725	chr19:20097317-20157102	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv1064400	chr19:20101052-20595412	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
28	nsv911322	chr19:20111134-20193556	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases
29	nsv578803	chr19:20116963-20160115	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	nsv1066045	chr19:20142912-20179084	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2286920	ZNF682	cis	Muscle Skeletal	GTEx
rs2286920	ZNF506	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20148400-20150600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr19:20148600-20150800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr19:20148800-20150600	Active TSS	Brain Cingulate Gyrus	brain
4	chr19:20148800-20150600	Active TSS	Fetal Muscle Trunk	muscle
5	chr19:20148800-20150800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:20149000-20150600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr19:20149000-20150600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:20149000-20150800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:20149000-20150800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:20149000-20150800	Active TSS	Brain Germinal Matrix	brain
11	chr19:20149000-20151200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:20149200-20150400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:20149200-20150400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr19:20149200-20150400	Active TSS	Fetal Muscle Leg	muscle
15	chr19:20149200-20150400	Active TSS	NHEK	skin
16	chr19:20149200-20150600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:20149200-20150600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:20149200-20150600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:20149200-20150600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:20149200-20150600	Active TSS	Fetal Brain Female	brain
21	chr19:20149200-20150600	Active TSS	HSMM	muscle
22	chr19:20149200-20150600	Active TSS	NHDF-Ad	bronchial
23	chr19:20149200-20150800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr19:20149200-20150800	Active TSS	HSMMtube	muscle
25	chr19:20149200-20151000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:20149400-20150400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr19:20149400-20150400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr19:20149400-20150400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:20149400-20150400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:20149400-20150400	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr19:20149400-20150400	Active TSS	Liver	Liver
32	chr19:20149400-20150400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr19:20149400-20150400	Active TSS	Fetal Brain Male	brain
34	chr19:20149400-20150400	Active TSS	Left Ventricle	heart
35	chr19:20149400-20150400	Active TSS	Right Ventricle	heart
36	chr19:20149400-20150400	Active TSS	Thymus	Thymus
37	chr19:20149400-20150400	Active TSS	Dnd41	blood
38	chr19:20149400-20150400	ZNF genes & repeats	GM12878-XiMat	blood
39	chr19:20149400-20150600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr19:20149400-20150600	Active TSS	Muscle Satellite Cultured Cells	--
41	chr19:20149400-20150600	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr19:20149400-20150600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:20149400-20150600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:20149400-20150600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:20149400-20150600	Active TSS	Fetal Lung	lung
46	chr19:20149400-20150600	Active TSS	Fetal Thymus	thymus
47	chr19:20149400-20150600	Active TSS	Right Atrium	heart
48	chr19:20149400-20150600	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr19:20149400-20150600	Active TSS	HUVEC	blood vessel
50	chr19:20149400-20150600	Active TSS	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links