Variant report

Variant	rs2972437
Chromosome Location	chr19:38210511-38210512
allele	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	POLR2A	chr19:38210412-38210808	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr19:38210059-38210905	GM12878	blood:	n/a	n/a
3	TBP	chr19:38210484-38210925	HepG2	liver:	n/a	n/a
4	MYC	chr19:38210010-38210932	K562	blood:	n/a	n/a
5	POLR2A	chr19:38210360-38210794	HEK293	kidney:	n/a	n/a
6	HEY1	chr19:38210384-38210774	K562	blood:	n/a	n/a
7	POLR2A	chr19:38210455-38210751	A549	lung:	n/a	n/a
8	RCOR1	chr19:38210180-38210912	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr19:38210403-38210812	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr19:38210115-38210853	GM12891	blood:	n/a	n/a
11	POLR2A	chr19:38210108-38210806	K562	blood:	n/a	n/a
12	TAF1	chr19:38210503-38210852	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr19:38210218-38210959	Hela-S3	cervix:	n/a	n/a
14	MAX	chr19:38210133-38210702	K562	blood:	n/a	n/a
15	POLR2A	chr19:38210380-38210734	GM12891	blood:	n/a	n/a
16	POLR2A	chr19:38210345-38210840	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr19:38210034-38210844	A549	lung:	n/a	n/a
18	E2F4	chr19:38209935-38210795	MCF10A-Er-Src	breast:	n/a	chr19:38210677-38210686 chr19:38210397-38210406 chr19:38210304-38210316 chr19:38210614-38210623
19	POLR2A	chr19:38210314-38210917	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr19:38210490-38210985	MCF-7	breast:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
21	YY1	chr19:38210496-38210931	HCT-116	colon:	n/a	n/a
22	POLR2A	chr19:38210043-38210852	GM12891	blood:	n/a	n/a
23	POLR2A	chr19:38209969-38210971	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr19:38210418-38210755	HepG2	liver:	n/a	n/a
25	YY1	chr19:38210306-38210798	GM12891	blood:	n/a	chr19:38210397-38210406
26	ETS1	chr19:38209883-38211026	A549	lung:	n/a	chr19:38210611-38210624 chr19:38210053-38210062
27	POLR2A	chr19:38210052-38210938	MCF-7	breast:	n/a	n/a
28	YY1	chr19:38210422-38210852	GM12878	blood:	n/a	n/a
29	MXI1	chr19:38209973-38210875	HepG2	liver:	n/a	n/a
30	MAX	chr19:38210038-38210934	Hela-S3	cervix:	n/a	n/a
31	STAT5A	chr19:38210232-38210733	GM12878	blood:	n/a	n/a
32	IRF1	chr19:38210457-38210799	K562	blood:	n/a	n/a
33	CTCF	chr19:38210220-38210947	K562	blood:	n/a	chr19:38210746-38210762 chr19:38210351-38210364 chr19:38210802-38210810
34	MYC	chr19:38210070-38210807	K562	blood:	n/a	n/a
35	SIN3A	chr19:38209532-38210972	H1-hESC	embryonic stem cell:	n/a	chr19:38210536-38210550 chr19:38210280-38210289
36	TAF1	chr19:38210021-38210799	HepG2	liver:	n/a	n/a
37	POLR2A	chr19:38210415-38210801	GM12891	blood:	n/a	n/a
38	POLR2A	chr19:38209954-38210968	PANC-1	pancreas:	n/a	n/a
39	HCFC1	chr19:38210160-38210839	K562	blood:	n/a	n/a
40	POLR2A	chr19:38210168-38210890	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:38209968-38210791	Hela-S3	cervix:	n/a	n/a
42	TBP	chr19:38210017-38210802	Hela-S3	cervix:	n/a	n/a
43	JUND	chr19:38210087-38210924	K562	blood:	n/a	n/a
44	RFX5	chr19:38210146-38210949	HepG2	liver:	n/a	chr19:38210872-38210887
45	TFAP2C	chr19:38210058-38211002	Hela-S3	cervix:	n/a	chr19:38210708-38210723
46	CTCF	chr19:38209103-38211671	A549	lung:	n/a	chr19:38210746-38210762 chr19:38210351-38210364 chr19:38209349-38209357 chr19:38210802-38210810
47	BCLAF1	chr19:38210054-38210753	GM12878	blood:	n/a	chr19:38210397-38210410 chr19:38210404-38210417
48	ZBTB7A	chr19:38210491-38210675	K562	blood:	n/a	n/a
49	RUNX3	chr19:38209959-38210909	GM12878	blood:	n/a	n/a
50	TAF1	chr19:38210411-38210802	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37996176..37999146-chr19:38209174..38211289,2	MCF-7	breast:
2	chr19:38083812..38086216-chr19:38209948..38211806,2	MCF-7	breast:

Variant related genes	Relation type
ZNF607	TF binding region
ENSG00000267552	TF binding region
ENSG00000171817	Chromatin interaction
ENSG00000180479	Chromatin interaction
ENSG00000266916	Chromatin interaction
ENSG00000188227	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10048511	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10402671	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10403173	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap]
rs10404031	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap]
rs10404567	0.83[ASW][hapmap];1.00[CEU][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap]
rs10406379	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap]
rs10408619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10409402	0.83[ASN][1000 genomes]
rs10409487	0.83[ASN][1000 genomes]
rs10409605	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10417576	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10420746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11083432	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs1119229	0.88[CEU][hapmap]
rs11673023	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12974225	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12979640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13744	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap]
rs1531549	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1564208	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap]
rs16958861	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16958863	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs171376	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1974714	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1975937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2075281	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs2075284	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2279148	0.95[CHB][hapmap]
rs2279149	0.88[ASW][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap]
rs2287229	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291002	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap]
rs241932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs241933	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs241950	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2909085	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2909088	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2909093	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2909098	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2909100	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2909102	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2909105	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2909109	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2927739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2927740	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2927742	0.82[ASN][1000 genomes]
rs2927746	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2927747	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972430	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972434	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972438	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972439	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972445	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972446	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972448	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2972452	0.81[ASN][1000 genomes]
rs2972458	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3095724	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3095726	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3101746	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3101747	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112433	0.84[ASN][1000 genomes]
rs3112434	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35863684	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3786869	0.87[CEU][hapmap]
rs3829688	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap]
rs4239516	0.87[CEU][hapmap]
rs4802024	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap]
rs4802029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs4802135	0.86[CHB][hapmap]
rs4803262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs4803509	0.83[ASN][1000 genomes]
rs4803524	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap]
rs4803551	0.88[CEU][hapmap]
rs56151076	0.88[ASN][1000 genomes]
rs56317671	0.83[EUR][1000 genomes]
rs62108337	0.81[EUR][1000 genomes]
rs6508736	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap]
rs6508742	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8102579	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap]
rs8103633	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103647	0.85[EUR][1000 genomes]
rs8109038	0.82[ASW][hapmap];0.81[LWK][hapmap]
rs8112706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs856300	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs856304	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9304569	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs954504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs958305	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs968073	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9749368	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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 target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2972437	PAFAH1B3	cis	cerebellum	SCAN
rs2972437	PHLDB3	cis	cerebellum	SCAN
rs2972437	DMPK	cis	parietal	SCAN
rs2972437	ZNF571	cis	multi-tissue	Pritchard
rs2972437	CBLC	cis	parietal	SCAN
rs2972437	HIPK4	cis	cerebellum	SCAN
rs2972437	PHLDB3	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38208800-38210800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr19:38208800-38211000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:38208800-38211000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:38208800-38211000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr19:38208800-38211200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr19:38209000-38210800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr19:38209000-38210800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:38209000-38210800	Active TSS	Right Ventricle	heart
9	chr19:38209000-38210800	Active TSS	K562	blood
10	chr19:38209000-38211000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:38209000-38211000	Active TSS	Fetal Intestine Large	intestine
12	chr19:38209200-38210600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:38209200-38210800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr19:38209200-38210800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:38209200-38210800	Active TSS	Left Ventricle	heart
16	chr19:38209200-38211000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:38209200-38211000	Active TSS	NHLF	lung
18	chr19:38209200-38211200	ZNF genes & repeats	Liver	Liver
19	chr19:38209400-38210800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:38209400-38210800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:38209400-38210800	Active TSS	Fetal Intestine Small	intestine
22	chr19:38209400-38211000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr19:38209400-38211000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:38209400-38211000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr19:38209400-38211000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr19:38209400-38211000	Active TSS	Fetal Heart	heart
27	chr19:38209400-38211000	Active TSS	HSMM	muscle
28	chr19:38209600-38210600	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr19:38209600-38210600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:38209600-38210800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:38209600-38210800	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr19:38209600-38210800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr19:38209600-38210800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:38209600-38210800	Active TSS	Brain Angular Gyrus	brain
35	chr19:38209600-38210800	Active TSS	Fetal Muscle Trunk	muscle
36	chr19:38209600-38210800	Active TSS	HMEC	breast
37	chr19:38209600-38211000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr19:38209600-38211000	Active TSS	Fetal Kidney	kidney
39	chr19:38209600-38211000	Active TSS	Ovary	ovary
40	chr19:38209600-38211000	Active TSS	Psoas Muscle	Psoas
41	chr19:38209600-38211000	Active TSS	NHDF-Ad	bronchial
42	chr19:38209800-38210800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:38209800-38210800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:38209800-38210800	Active TSS	Colonic Mucosa	Colon
45	chr19:38209800-38210800	Active TSS	Fetal Brain Male	brain
46	chr19:38209800-38210800	Active TSS	Fetal Thymus	thymus
47	chr19:38209800-38210800	Active TSS	Pancreas	Pancrea
48	chr19:38209800-38210800	Active TSS	Stomach Mucosa	stomach
49	chr19:38209800-38210800	Active TSS	GM12878-XiMat	blood
50	chr19:38209800-38211000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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