Variant report

Variant	rs2335897
Chromosome Location	chr19:20150456-20150457
allele	A/C/G/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	SIN3AK20	chr19:20149746-20150530	PANC-1	pancreas:	n/a	n/a
2	CTCF	chr19:20149896-20150476	H1-hESC	embryonic stem cell:	n/a	n/a
3	PBX3	chr19:20149781-20150754	SK-N-SH	brain:	n/a	chr19:20150427-20150436
4	NFYB	chr19:20150182-20150545	GM12878	blood:	n/a	chr19:20150358-20150371
5	POLR2A	chr19:20149788-20150525	PFSK-1	brain:	n/a	n/a
6	CREB1	chr19:20149860-20150645	HepG2	liver:	n/a	n/a
7	TBP	chr19:20150050-20150457	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:20149806-20150470	MCF-7	breast:	n/a	n/a
9	CEBPB	chr19:20150231-20150800	IMR90	lung:	n/a	chr19:20150648-20150661 chr19:20150648-20150659
10	REST	chr19:20149567-20150892	H1-neurons	neurons:	n/a	chr19:20149965-20149975 chr19:20150365-20150374 chr19:20150290-20150303
11	NFYB	chr19:20150191-20150562	K562	blood:	n/a	chr19:20150358-20150371
12	POLR2A	chr19:20149852-20150457	GM15510	blood:	n/a	n/a
13	SP1	chr19:20150242-20150580	K562	blood:	n/a	chr19:20150408-20150418 chr19:20150407-20150419 chr19:20150408-20150422 chr19:20150408-20150418 chr19:20150330-20150339 chr19:20150407-20150419 chr19:20150409-20150418 chr19:20150329-20150341 chr19:20150408-20150417 chr19:20150408-20150417 chr19:20150329-20150341
14	PBX3	chr19:20149767-20150755	SK-N-SH	brain:	n/a	chr19:20150427-20150436
15	MAX	chr19:20149771-20150552	SK-N-SH	brain:	n/a	chr19:20150410-20150420
16	TAF7	chr19:20149802-20150460	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF1	chr19:20149631-20150580	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr19:20149822-20150540	H1-hESC	embryonic stem cell:	n/a	chr19:20150410-20150420
19	SP2	chr19:20150158-20150579	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr19:20149895-20150500	PANC-1	pancreas:	n/a	n/a
21	SIN3AK20	chr19:20149804-20150503	SK-N-SH	brain:	n/a	n/a
22	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
23	SP4	chr19:20150003-20150572	H1-hESC	embryonic stem cell:	n/a	chr19:20150329-20150345 chr19:20150405-20150421 chr19:20150407-20150423
24	POLR2A	chr19:20149828-20150488	MCF-7	breast:	n/a	n/a
25	GABPA	chr19:20149761-20150642	MCF-7	breast:	n/a	chr19:20150409-20150418
26	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
27	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
28	POLR2A	chr19:20149723-20150655	PFSK-1	brain:	n/a	n/a
29	USF1	chr19:20150205-20150542	SK-N-SH_RA	brain:	n/a	chr19:20150312-20150328
30	MYC	chr19:20150004-20150539	NB4	blood:	n/a	chr19:20150410-20150420
31	CREB1	chr19:20149793-20150493	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:20149712-20150542	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr19:20149995-20150763	H1-hESC	embryonic stem cell:	n/a	chr19:20150410-20150420
34	POLR2A	chr19:20149671-20150586	H1-neurons	neurons:	n/a	n/a
35	RFX5	chr19:20150067-20150476	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr19:20149643-20150572	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr19:20149769-20150524	GM12892	blood:	n/a	n/a
38	POLR2A	chr19:20149808-20150519	HepG2	liver:	n/a	n/a
39	E2F4	chr19:20150151-20150474	GM12878	blood:	n/a	chr19:20150409-20150418
40	MXI1	chr19:20149699-20150501	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF1	chr19:20150041-20150465	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr19:20149832-20150462	GM19193	blood:	n/a	n/a
43	GABPA	chr19:20149760-20150589	SK-N-SH	brain:	n/a	chr19:20150409-20150418
44	CREB1	chr19:20149878-20150565	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr19:20149661-20150522	GM19099	blood:	n/a	n/a
46	CTCF	chr19:20150335-20150473	Spleen_OC	spleen:	n/a	n/a
47	ZNF143	chr19:20150051-20150545	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAZ	chr19:20149537-20150595	IMR90	lung:	n/a	chr19:20150410-20150420
49	TCF7L2	chr19:20150200-20150613	HEK293	kidney:	n/a	n/a
50	POLR2A	chr19:20149778-20150491	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:20150441-20150491	HMEC	breast:	n/a
2	chr19:20150441-20150491	SAEC	small airway:	n/a
3	chr19:20150441-20150491	MCF10A-Er-Src	breast:	n/a
4	chr19:20150441-20150491	SKMC	muscle:	n/a
5	chr19:20150441-20150491	HCT-116	colon:	n/a
6	chr19:20150441-20150491	HAEpiC	amniotic membrane:	n/a
7	chr19:20150441-20150491	GM12878	blood:	n/a
8	chr19:20150441-20150491	RPTEC	kidney:	n/a
9	chr19:20150441-20150491	AG04449	skin:	fetal
10	chr19:20150441-20150491	GM12891	blood:	n/a
11	chr19:20150441-20150491	HNPCEpiC	eye:	n/a
12	chr19:20150441-20150491	PrEC	prostate:	n/a
13	chr19:20150441-20150491	HepG2	liver:	n/a
14	chr19:20150441-20150491	HL-60	blood:	n/a
15	chr19:20150441-20150491	HRCEpiC	kidney:	n/a
16	chr19:20150441-20150491	AoSMC	blood vessel:	n/a
17	chr19:20150441-20150491	A549	lung:	n/a
18	chr19:20150441-20150491	HEEpiC	esophagus:	n/a
19	chr19:20150441-20150491	Hepatocyte	liver:	n/a
20	chr19:20150441-20150491	SK-N-SH_RA	brain:	n/a
21	chr19:20150441-20150491	ProgFib	skin:	n/a
22	chr19:20150441-20150491	CMK	blood:	n/a
23	chr19:20150441-20150491	H1-hESC	embryonic stem cell:	embryo
24	chr19:20150441-20150491	HCF	heart:	n/a
25	chr19:20150441-20150491	AG09319	gingival:	n/a
26	chr19:20150441-20150491	HEK293	kidney:	embryo
27	chr19:20150441-20150491	NH-A	brain:	n/a
28	chr19:20150441-20150491	MCF-7	breast:	n/a
29	chr19:20150441-20150491	AG04450	lung:	fetal
30	chr19:20150441-20150491	Caco-2	colon:	n/a
31	chr19:20150441-20150491	PFSK-1	brain:	n/a
32	chr19:20150441-20150491	HCPEpiC	choroid plexus:	n/a
33	chr19:20150441-20150491	HRPEpiC	eye:	n/a
34	chr19:20150441-20150491	HPAEpiC	pulmonary alveolar:	n/a
35	chr19:20150441-20150491	AG09309	skin:	n/a
36	chr19:20150441-20150491	GM12892	blood:	n/a
37	chr19:20150441-20150491	HCM	heart:	n/a
38	chr19:20150441-20150491	LNCaP	prostate:	n/a
39	chr19:20150441-20150491	HUVEC	blood vessel:	n/a
40	chr19:20150441-20150491	GM19239	blood:	n/a
41	chr19:20150441-20150491	K562	blood:	n/a
42	chr19:20150441-20150491	T-47D	breast:	n/a
43	chr19:20150441-20150491	GM06990	blood:	n/a
44	chr19:20150441-20150491	NHDF-neo	bronchial:	n/a
45	chr19:20150441-20150491	U87	brain:	n/a
46	chr19:20150441-20150491	NHBE	bronchial:	n/a
47	chr19:20150441-20150491	NT2-D1	testis:	n/a
48	chr19:20150441-20150491	HRE	kidney:	n/a
49	chr19:20150441-20150491	PANC-1	pancreas:	n/a
50	chr19:20150441-20150491	ECC-1	luminal epithelium:	n/a

Variant related genes	Relation type
ZNF682	TF binding region
ZNF682	CpG island

Extended variants
information (count: 125 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10404484	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10407270	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10408129	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10409512	0.81[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10409614	0.87[ASN][1000 genomes]
rs10409629	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10410313	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10416812	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10418140	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10419467	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10420011	1.00[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10420124	0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10420900	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423526	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10423976	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11085293	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11085294	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11085295	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1121387	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1121388	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668688	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11671950	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12463237	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12975130	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12976158	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12977326	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12983056	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12983683	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1319479	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17767339	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1860941	0.80[YRI][hapmap]
rs1974649	0.87[ASN][1000 genomes]
rs1974650	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1974651	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1987408	0.84[ASN][1000 genomes]
rs2017721	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2041606	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2110124	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2110125	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2159921	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2215721	0.84[ASN][1000 genomes]
rs2286920	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]
rs2286921	0.93[CEU][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286922	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286923	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335888	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2335889	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2335890	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2335892	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2335896	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs258575	0.81[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs258579	0.81[CEU][hapmap]
rs2878552	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4563152	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4809023	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5013556	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6511066	0.93[CEU][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6511067	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6511069	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6511070	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6511071	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6511072	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6511073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6511074	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6511075	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6511076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs71944124	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7246955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247476	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247483	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247572	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7247818	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247843	0.83[ASN][1000 genomes]
rs7248117	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7248186	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7250923	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7251276	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7256046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8101213	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8101367	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8103577	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8103855	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104703	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104933	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8106847	0.93[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8107041	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8109906	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8112738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8182568	0.86[ASN][1000 genomes]
rs9304964	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9304965	0.92[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs963380	0.93[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs993044	0.86[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2335897	ZNF682	cis	Muscle Skeletal	GTEx
rs2335897	ZNF682	cis	lymphoblastoid	seeQTL
rs2335897	ZNF682	cis	Lymphoblastoid	GTEx

Chromatin state (count:104 , 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	chr19:20149200-20150600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:20149200-20150600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:20149200-20150600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:20149200-20150600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:20149200-20150600	Active TSS	Fetal Brain Female	brain
17	chr19:20149200-20150600	Active TSS	HSMM	muscle
18	chr19:20149200-20150600	Active TSS	NHDF-Ad	bronchial
19	chr19:20149200-20150800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr19:20149200-20150800	Active TSS	HSMMtube	muscle
21	chr19:20149200-20151000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:20149400-20150600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr19:20149400-20150600	Active TSS	Muscle Satellite Cultured Cells	--
24	chr19:20149400-20150600	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr19:20149400-20150600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:20149400-20150600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:20149400-20150600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:20149400-20150600	Active TSS	Fetal Lung	lung
29	chr19:20149400-20150600	Active TSS	Fetal Thymus	thymus
30	chr19:20149400-20150600	Active TSS	Right Atrium	heart
31	chr19:20149400-20150600	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr19:20149400-20150600	Active TSS	HUVEC	blood vessel
33	chr19:20149400-20150600	Active TSS	NHLF	lung
34	chr19:20149400-20150600	Active TSS	Osteobl	bone
35	chr19:20149400-20150800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr19:20149400-20150800	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr19:20149400-20150800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr19:20149400-20150800	Active TSS	Fetal Intestine Large	intestine
39	chr19:20149400-20150800	Active TSS	Rectal Smooth Muscle	rectum
40	chr19:20149400-20150800	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr19:20149400-20150800	Active TSS	NH-A	brain
42	chr19:20149400-20151000	Active TSS	HepG2	liver
43	chr19:20149600-20150600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:20149600-20150600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:20149600-20150600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:20149600-20150600	Active TSS	Aorta	Aorta
47	chr19:20149600-20150600	Active TSS	Brain Angular Gyrus	brain
48	chr19:20149600-20150600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:20149600-20150600	Active TSS	Fetal Intestine Small	intestine
50	chr19:20149600-20150600	Active TSS	Fetal Stomach	stomach

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