Variant report

Variant	rs2291004
Chromosome Location	chr19:37997952-37997953
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	YY1	chr19:37996928-37998393	SK-N-SH	brain:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
2	ELF1	chr19:37997622-37998154	GM12878	blood:	n/a	n/a
3	YY1	chr19:37997261-37997960	ECC-1	luminal epithelium:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
4	POLR2A	chr19:37997048-37998230	GM12891	blood:	n/a	n/a
5	POLR2A	chr19:37997099-37998185	GM19193	blood:	n/a	n/a
6	ATF2	chr19:37997130-37998206	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr19:37997860-37998010	SAEC	small airway:	n/a	n/a
8	POLR2A	chr19:37996710-37998244	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr19:37996967-37998281	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr19:37997657-37998066	ProgFib	skin:	n/a	n/a
11	POLR2A	chr19:37996729-37998327	H1-neurons	neurons:	n/a	n/a
12	RELA	chr19:37997043-37998288	GM15510	blood:	n/a	n/a
13	GTF2F1	chr19:37997112-37998159	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP1	chr19:37996975-37998151	H1-hESC	embryonic stem cell:	n/a	chr19:37997276-37997288 chr19:37997276-37997288 chr19:37997277-37997286 chr19:37997277-37997291 chr19:37997295-37997307
15	TCF7L2	chr19:37997275-37998066	MCF-7	breast:	n/a	chr19:37997512-37997522 chr19:37997509-37997523 chr19:37997512-37997521
16	CTCF	chr19:37997840-37997990	NHEK	skin:	n/a	n/a
17	YY1	chr19:37997193-37998154	GM12878	blood:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
18	YY1	chr19:37997186-37998169	NT2-D1	testis:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
19	ZNF143	chr19:37996866-37998180	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr19:37996869-37998318	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr19:37997159-37998150	GM12878	blood:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
22	POLR2A	chr19:37997163-37998216	GM18951	blood:	n/a	n/a
23	REST	chr19:37997769-37998140	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr19:37996674-37998256	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr19:37997231-37998167	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr19:37997529-37998219	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr19:37997091-37998347	SK-N-SH	brain:	n/a	n/a
28	POU2F2	chr19:37997530-37998185	GM12891	blood:	n/a	n/a
29	YY1	chr19:37997241-37998135	GM12892	blood:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
30	YY1	chr19:37997194-37998139	GM12891	blood:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
31	POLR2A	chr19:37997070-37998304	GM12891	blood:	n/a	n/a
32	TAF1	chr19:37996730-37998269	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr19:37997199-37998202	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr19:37997660-37998074	MCF-7	breast:	n/a	n/a
35	NANOG	chr19:37997705-37998156	H1-hESC	embryonic stem cell:	n/a	n/a
36	NRF1	chr19:37997678-37997995	GM12878	blood:	n/a	n/a
37	JUND	chr19:37997033-37998137	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr19:37997884-37998209	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr19:37997157-37998200	MCF-7	breast:	n/a	n/a
40	POLR2A	chr19:37996999-37998050	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr19:37996477-37998446	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:37997084-37998183	MCF-7	breast:	n/a	n/a
43	YY1	chr19:37997226-37997987	GM12892	blood:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
44	YY1	chr19:37996995-37998245	SK-N-SH_RA	brain:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
45	POLR2A	chr19:37997069-37998224	GM12891	blood:	n/a	n/a
46	ZBTB33	chr19:37997546-37998332	SK-N-SH	brain:	n/a	chr19:37998074-37998084
47	REST	chr19:37997865-37998176	SK-N-SH	brain:	n/a	n/a
48	REST	chr19:37996982-37998223	HL-60	blood:	n/a	chr19:37997421-37997434
49	POLR2A	chr19:37996702-37998421	PANC-1	pancreas:	n/a	n/a
50	MXI1	chr19:37996285-37998848	SK-N-SH	brain:	n/a	chr19:37996660-37996675

No.	Distal block	Cell Line	Cell type
1	chr19:37992616..37995600-chr19:37995736..37998672,5	MCF-7	breast:
2	chr19:37996176..37999146-chr19:38209174..38211289,2	MCF-7	breast:
3	chr19:37955552..37960531-chr19:37996583..37998774,4	MCF-7	breast:
4	chr19:37957751..37961901-chr19:37996099..37999727,6	MCF-7	breast:
5	chr19:37987631..37989871-chr19:37996181..37998149,2	MCF-7	breast:
6	chr19:37825178..37827025-chr19:37995882..37998065,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF569-5	chr19:37997741-37998058	NONHSAT066122
2	lnc-ZNF569-5	chr19:37997741-37998292	NONHSAT066119

Variant related genes	Relation type
ZNF793	TF binding region
ENSG00000266916	TF binding region
ENSG00000267115	TF binding region
ENSG00000266916	Chromatin interaction
ENSG00000198182	Chromatin interaction
ENSG00000181666	Chromatin interaction
ENSG00000267115	Chromatin interaction
ENSG00000171827	Chromatin interaction
ENSG00000196437	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1015848	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1015849	0.88[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1035479	0.82[EUR][1000 genomes]
rs10403173	0.82[ASW][hapmap]
rs10403582	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10404031	0.82[ASW][hapmap]
rs10404920	0.87[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap]
rs10404945	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10405064	0.81[ASW][hapmap];0.93[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap]
rs10405325	0.82[EUR][1000 genomes]
rs10405407	0.93[CEU][hapmap];0.84[JPT][hapmap];0.86[TSI][hapmap]
rs10406177	0.93[CEU][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs10406379	0.82[ASW][hapmap]
rs10407084	0.88[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10409204	0.87[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10411574	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10413602	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10414904	0.93[CEU][hapmap];0.84[JPT][hapmap]
rs10415024	0.93[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap]
rs10415937	0.93[CEU][hapmap];0.84[JPT][hapmap]
rs10417503	0.81[ASW][hapmap];0.93[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap]
rs10417844	0.87[CEU][hapmap];0.80[JPT][hapmap];0.86[TSI][hapmap]
rs10420430	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10420722	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10420754	0.93[CEU][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs10422074	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10422667	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10424574	0.81[ASW][hapmap];0.93[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap]
rs10426618	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11083426	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12972252	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12979470	0.86[EUR][1000 genomes]
rs12981532	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13343471	0.87[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13343502	0.88[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13345116	0.93[CEU][hapmap];0.84[JPT][hapmap]
rs1373991	0.93[CEU][hapmap];0.84[JPT][hapmap];0.86[TSI][hapmap]
rs13744	0.82[ASW][hapmap]
rs1382357	0.93[CEU][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs1559229	0.93[CEU][hapmap];0.94[JPT][hapmap]
rs1564208	0.82[ASW][hapmap]
rs16958863	0.82[ASW][hapmap]
rs1823061	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs2045908	0.92[EUR][1000 genomes]
rs2081096	0.93[CEU][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs2112920	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2112922	0.85[EUR][1000 genomes]
rs2112923	0.93[CEU][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs2126977	1.00[CEU][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs2279148	1.00[CEU][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes]
rs2279149	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs2291002	0.82[ASW][hapmap]
rs2303131	0.87[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28373708	0.92[EUR][1000 genomes]
rs28538699	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28605784	0.90[EUR][1000 genomes]
rs28623164	0.86[EUR][1000 genomes]
rs2891699	0.93[CEU][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs2909088	0.82[ASW][hapmap]
rs2909102	0.82[ASW][hapmap]
rs2909109	0.82[ASW][hapmap]
rs2927740	0.82[ASW][hapmap]
rs2927747	0.82[ASW][hapmap]
rs2972448	0.82[ASW][hapmap]
rs35540940	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35777021	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3745765	0.93[CEU][hapmap];0.84[JPT][hapmap];0.86[TSI][hapmap]
rs3760825	0.93[CEU][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs3803895	0.82[EUR][1000 genomes]
rs3829688	0.82[ASW][hapmap]
rs4417644	0.93[CEU][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap];0.83[MKK][hapmap];0.85[TSI][hapmap]
rs4452075	0.93[CEU][hapmap];0.94[JPT][hapmap];0.86[TSI][hapmap]
rs4801759	0.87[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4801803	0.94[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802024	0.82[ASW][hapmap]
rs4802766	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4802889	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803195	0.88[EUR][1000 genomes]
rs4803210	0.88[CEU][hapmap]
rs4803229	0.93[CEU][hapmap];0.94[JPT][hapmap];0.86[TSI][hapmap]
rs4803460	0.82[EUR][1000 genomes]
rs4803539	0.82[EUR][1000 genomes]
rs59224125	0.90[EUR][1000 genomes]
rs6508719	0.93[CEU][hapmap];0.94[JPT][hapmap]
rs6508732	1.00[CEU][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6508733	1.00[CEU][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes]
rs6508736	0.82[ASW][hapmap]
rs713256	0.87[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.92[MKK][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7246993	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7247259	0.93[CEU][hapmap];0.84[JPT][hapmap]
rs7248733	1.00[CEU][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs7252099	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7252325	0.86[EUR][1000 genomes]
rs7252346	0.93[CEU][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs7253091	0.93[CEU][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs7253114	1.00[CEU][hapmap];0.87[GIH][hapmap];0.80[JPT][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs7255140	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7255407	0.86[EUR][1000 genomes]
rs7255785	0.88[EUR][1000 genomes]
rs7255952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7255972	0.88[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7255996	0.88[EUR][1000 genomes]
rs7256130	0.83[EUR][1000 genomes]
rs7257672	0.93[CEU][hapmap];0.80[JPT][hapmap]
rs7258692	0.93[CEU][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.82[TSI][hapmap]
rs73631095	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7408563	0.93[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap]
rs8106839	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8109038	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8109632	0.86[EUR][1000 genomes]
rs8111782	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8112610	0.83[EUR][1000 genomes]
rs9304566	0.81[ASW][hapmap];0.93[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap]
rs9676739	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9676967	0.86[EUR][1000 genomes]
rs9917081	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	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

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2291004	DMPK	cis	parietal	SCAN
rs2291004	CBLC	cis	parietal	SCAN
rs2291004	LIPE	cis	cerebellum	SCAN
rs2291004	PAFAH1B3	cis	cerebellum	SCAN
rs2291004	BLVRB	cis	cerebellum	SCAN
rs2291004	PLEKHG2	cis	cerebellum	SCAN
rs2291004	LTBP4	cis	cerebellum	SCAN
rs2291004	FAM98C	cis	cerebellum	SCAN
rs2291004	MEGF8	cis	cerebellum	SCAN
rs2291004	EXOSC5	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37996000-37999200	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:37996000-37999200	ZNF genes & repeats	Liver	Liver
3	chr19:37996200-37998600	Active TSS	Colonic Mucosa	Colon
4	chr19:37996200-37999000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:37996400-37998400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:37996400-37998600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr19:37996400-37999400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:37996400-37999400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr19:37996600-37998000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr19:37996600-37998200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:37996600-37998400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr19:37996600-37998600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr19:37996600-37998600	Active TSS	Aorta	Aorta
14	chr19:37996600-37998800	ZNF genes & repeats	GM12878-XiMat	blood
15	chr19:37996600-37999000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:37996600-37999400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr19:37996800-37998000	ZNF genes & repeats	A549	lung
18	chr19:37996800-37998200	Active TSS	Gastric	stomach
19	chr19:37996800-37998200	ZNF genes & repeats	Thymus	Thymus
20	chr19:37996800-37998200	ZNF genes & repeats	HepG2	liver
21	chr19:37996800-37998200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr19:37996800-37998400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:37996800-37998400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:37996800-37998400	Active TSS	Fetal Brain Female	brain
25	chr19:37996800-37998400	Active TSS	Fetal Kidney	kidney
26	chr19:37996800-37998600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr19:37996800-37998600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:37996800-37998600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:37996800-37998600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:37996800-37998600	Active TSS	Fetal Thymus	thymus
31	chr19:37996800-37998600	Active TSS	Psoas Muscle	Psoas
32	chr19:37996800-37998600	Active TSS	NH-A	brain
33	chr19:37996800-37998600	Active TSS	NHDF-Ad	bronchial
34	chr19:37996800-37998800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr19:37996800-37998800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:37996800-37998800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:37996800-37998800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:37996800-37998800	Active TSS	Muscle Satellite Cultured Cells	--
39	chr19:37996800-37998800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr19:37996800-37998800	Active TSS	Ovary	ovary
41	chr19:37996800-37998800	Active TSS	NHLF	lung
42	chr19:37996800-37998800	Active TSS	Osteobl	bone
43	chr19:37996800-37999000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr19:37997000-37998000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:37997000-37998000	Active TSS	Primary B cells from cord blood	blood
46	chr19:37997000-37998200	Active TSS	Brain Hippocampus Middle	brain
47	chr19:37997000-37998200	Active TSS	Small Intestine	intestine
48	chr19:37997000-37998200	ZNF genes & repeats	HSMMtube	muscle
49	chr19:37997000-37998400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:37997000-37998400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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