Variant report

Variant	rs7257857
Chromosome Location	chr19:21579538-21579539
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	GABPA	chr19:21579520-21580279	SK-N-SH	brain:	n/a	n/a
2	SP1	chr19:21579536-21580144	GM12878	blood:	n/a	chr19:21579827-21579838 chr19:21579827-21579839 chr19:21579827-21579839 chr19:21579829-21579838
3	NFYB	chr19:21579475-21580100	GM12878	blood:	n/a	chr19:21579848-21579858
4	GABPA	chr19:21579515-21580282	MCF-7	breast:	n/a	n/a
5	RFX5	chr19:21579229-21580347	SK-N-SH	brain:	n/a	chr19:21580109-21580123 chr19:21579849-21579858
6	MXI1	chr19:21579444-21580709	SK-N-SH	brain:	n/a	n/a
7	SP1	chr19:21579521-21580132	H1-hESC	embryonic stem cell:	n/a	chr19:21579827-21579838 chr19:21579827-21579839 chr19:21579827-21579839 chr19:21579829-21579838
8	POLR2A	chr19:21579509-21580524	H1-neurons	neurons:	n/a	n/a
9	ELF1	chr19:21579422-21580352	MCF-7	breast:	n/a	chr19:21579911-21579924 chr19:21579913-21579922 chr19:21579912-21579923 chr19:21580134-21580146
10	POLR2A	chr19:21579438-21580612	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr19:21579406-21580703	H1-neurons	neurons:	n/a	chr19:21579901-21579914 chr19:21579943-21579961
12	GABPA	chr19:21579528-21580273	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr19:21579452-21580217	SK-N-SH	brain:	n/a	chr19:21579797-21579817 chr19:21579810-21579819
14	POLR2A	chr19:21579516-21580417	PFSK-1	brain:	n/a	n/a
15	GABPA	chr19:21579533-21580421	MCF-7	breast:	n/a	n/a
16	SP2	chr19:21579533-21580108	HepG2	liver:	n/a	chr19:21579823-21579838 chr19:21579827-21579836

Variant related genes	Relation type
ZNF493	TF binding region

Extended variants
information (count: 179 )
Associated
traits (count: 37 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs10405716	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1055753	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10854043	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11085441	0.96[CEU][hapmap];0.89[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs11085443	0.88[ASN][1000 genomes]
rs11085447	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.88[MKK][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11085450	0.80[ASN][1000 genomes]
rs1142653	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11667259	0.81[AMR][1000 genomes]
rs11667770	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11668691	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11669043	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11669588	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11671265	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11673304	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11673406	0.84[ASN][1000 genomes]
rs11882553	0.82[ASN][1000 genomes]
rs12459702	0.88[ASN][1000 genomes]
rs12461384	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12462022	0.89[ASN][1000 genomes]
rs12609823	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12610331	0.85[ASN][1000 genomes]
rs12971736	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12972339	0.90[ASN][1000 genomes]
rs12972580	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12972601	0.80[ASN][1000 genomes]
rs12974735	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12975081	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12975464	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12978116	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12979646	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12980097	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12981564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12981735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12981775	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12981777	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12982162	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12982282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12982346	0.83[ASN][1000 genomes]
rs12983426	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12983787	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12984300	0.85[ASN][1000 genomes]
rs12984871	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1401926	0.81[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap]
rs17680671	0.89[CEU][hapmap]
rs1781863	0.83[ASN][1000 genomes]
rs1781873	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs1813234	0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1932088	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1963531	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1963532	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1976384	0.98[ASN][1000 genomes]
rs2012013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012038	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2061917	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2061918	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2061919	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2086317	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2086318	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2086320	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2088762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2102072	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2127404	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2127405	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2127406	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2127407	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2127408	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2133819	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2133822	0.90[JPT][hapmap]
rs2170024	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2170025	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2173728	0.85[ASN][1000 genomes]
rs2219840	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2262896	0.80[ASN][1000 genomes]
rs2358982	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2358983	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2358984	0.94[CHB][hapmap];0.90[ASN][1000 genomes]
rs2358985	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2358986	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358988	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358989	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2358990	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358991	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2358992	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2434997	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2562456	0.81[JPT][hapmap]
rs2650774	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2650810	0.85[ASN][1000 genomes]
rs2650845	0.94[CHB][hapmap];0.98[CHD][hapmap];0.86[ASN][1000 genomes]
rs2650847	0.86[ASN][1000 genomes]
rs2884601	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2914629	0.85[ASN][1000 genomes]
rs2914638	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2928208	0.90[ASN][1000 genomes]
rs2968025	0.83[ASN][1000 genomes]
rs35580411	0.90[ASN][1000 genomes]
rs35773446	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35994743	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3973190	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4315457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4341872	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs4398213	0.80[ASN][1000 genomes]
rs4438422	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4461198	0.86[ASN][1000 genomes]
rs4525621	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4566304	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4621113	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs627522	0.81[JPT][hapmap]
rs6511222	0.85[ASN][1000 genomes]
rs6511228	0.89[ASN][1000 genomes]
rs6511229	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6511231	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511232	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511233	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511237	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511238	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511242	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511245	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511246	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7245729	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7245920	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7247060	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7247411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248601	0.91[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7248989	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7249412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7249636	0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs7252254	0.88[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs7252261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7252873	0.89[ASN][1000 genomes]
rs7253178	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7253886	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7254059	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7254436	1.00[CEU][hapmap]
rs7254762	1.00[CEU][hapmap]
rs7256361	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7257580	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258086	0.90[ASN][1000 genomes]
rs7258335	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7259311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7260369	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7508030	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7508092	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7508104	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7508671	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8099940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8101089	0.94[JPT][hapmap]
rs8102328	0.90[ASN][1000 genomes]
rs8102342	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8103325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103908	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8104017	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8106936	0.98[ASN][1000 genomes]
rs8107999	0.89[CEU][hapmap];0.91[TSI][hapmap]
rs8109940	0.85[JPT][hapmap]
rs8110690	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8110814	0.88[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap]
rs8110842	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8110967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8111549	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8112059	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8112583	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs924487	0.85[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs951162	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers 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 target site	35 gene(s)	inside rSNPs	diseases
5	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1793996	chr19:21544242-21609607	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1801985	chr19:21544242-21609607	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1844586	chr19:21544242-21609607	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1834499	chr19:21557835-21609607	Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv1834993	chr19:21557835-21609607	Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:37)

SNP	Gene	Cis/trans	Tissue	Source
rs7257857	CTD-2561J22.5	cis	Nerve Tibial	GTEx
rs7257857	RP11-420K14.2	cis	Heart Left Ventricle	GTEx
rs7257857	RP11-678G14.2	cis	Artery Tibial	GTEx
rs7257857	RP11-420K14.3	cis	Whole Blood	GTEx
rs7257857	RP11-678G14.2	cis	lung	GTEx
rs7257857	ZNF493	cis	Lymphoblastoid	GTEx
rs7257857	CTD-2561J22.5	cis	lung	GTEx
rs7257857	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs7257857	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs7257857	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs7257857	ZNF493	cis	multi-tissue	Pritchard
rs7257857	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs7257857	CTD-2561J22.5	cis	Skin Sun Exposed Lower leg	GTEx
rs7257857	RP11-678G14.2	cis	Nerve Tibial	GTEx
rs7257857	LOC115648	cis	uninvolved skin	skin_eQTL
rs7257857	LINC00664	cis	Adipose Subcutaneous	GTEx
rs7257857	ZNF429	cis	Muscle Skeletal	GTEx
rs7257857	ZNF738	cis	parietal	SCAN
rs7257857	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs7257857	CTD-2561J22.5	cis	Esophagus Muscularis	GTEx
rs7257857	RP11-678G14.3	cis	lung	GTEx
rs7257857	ZNF708	cis	cerebellum	SCAN
rs7257857	ZNF208	cis	parietal	SCAN
rs7257857	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs7257857	ZNF429	cis	cerebellum	SCAN
rs7257857	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs7257857	ZNF493	cis	cerebellum	SCAN
rs7257857	ZNF429	cis	Whole Blood	GTEx
rs7257857	ZNF626	cis	lymphoblastoid	seeQTL
rs7257857	RP11-678G14.2	cis	Whole Blood	GTEx
rs7257857	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs7257857	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs7257857	CTD-2561J22.5	cis	Thyroid	GTEx
rs7257857	CTD-2561J22.5	cis	Stomach	GTEx
rs7257857	RP11-678G14.2	cis	Skin Sun Exposed Lower leg	GTEx
rs7257857	RP11-678G14.2	cis	Thyroid	GTEx
rs7257857	CTD-2561J22.5	cis	Artery Tibial	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21567400-21579800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:21578800-21581200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:21579000-21579600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr19:21579000-21579600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:21579000-21579600	Enhancers	HepG2	liver
6	chr19:21579000-21579800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:21579000-21581600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:21579200-21579600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr19:21579200-21579600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:21579200-21579800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:21579200-21579800	Flanking Active TSS	Dnd41	blood
12	chr19:21579200-21580800	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr19:21579200-21580800	Active TSS	Stomach Smooth Muscle	stomach
14	chr19:21579400-21579600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
15	chr19:21579400-21579600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr19:21579400-21579600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr19:21579400-21579600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:21579400-21579800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:21579400-21579800	Enhancers	Primary B cells from peripheral blood	blood
20	chr19:21579400-21579800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:21579400-21579800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr19:21579400-21580000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr19:21579400-21580400	Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr19:21579400-21580400	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr19:21579400-21580600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:21579400-21580600	Active TSS	Duodenum Mucosa	Duodenum
27	chr19:21579400-21580800	Active TSS	Primary T cells from cord blood	blood
28	chr19:21579400-21580800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:21579400-21580800	Active TSS	Fetal Brain Female	brain
30	chr19:21579400-21581200	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr19:21579400-21581400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links