Variant report

Variant	rs3932818
Chromosome Location	chr3:134206069-134206070
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	CREB1	chr3:134205556-134206111	K562	blood:	n/a	n/a
2	POLR2A	chr3:134203788-134206592	Raji	blood:	n/a	n/a
3	IRF1	chr3:134205717-134206570	K562	blood:	n/a	chr3:134206467-134206476 chr3:134206532-134206542 chr3:134206504-134206518 chr3:134206531-134206543
4	GATA3	chr3:134206062-134206614	T-47D	breast:	n/a	chr3:134206292-134206302 chr3:134206514-134206523
5	GATA1	chr3:134203739-134206558	PBDE	blood:	n/a	chr3:134206292-134206302 chr3:134206514-134206523
6	ATF2	chr3:134205996-134206616	GM12878	blood:	n/a	n/a
7	POLR2A	chr3:134201396-134207240	IMR90	lung:	n/a	n/a
8	POLR2A	chr3:134203678-134206074	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr3:134203444-134206374	MCF10A-Er-Src	breast:	n/a	n/a
10	REST	chr3:134203765-134206179	H1-neurons	neurons:	n/a	chr3:134205505-134205512
11	POLR2A	chr3:134203468-134206090	GM12892	blood:	n/a	n/a
12	POLR2A	chr3:134203480-134206472	PBDE	blood:	n/a	n/a
13	CHD1	chr3:134203656-134206365	GM12878	blood:	n/a	n/a
14	ESR1	chr3:134206000-134206630	T-47D	breast:	n/a	n/a
15	MXI1	chr3:134203237-134206665	SK-N-SH	brain:	n/a	chr3:134205393-134205402
16	POLR2A	chr3:134203367-134206821	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:134203531-134206360	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr3:134203316-134206681	GM18505	blood:	n/a	n/a
19	POLR2A	chr3:134203743-134206587	GM19099	blood:	n/a	n/a
20	HCFC1	chr3:134203632-134206480	Hela-S3	cervix:	n/a	n/a
21	RFX5	chr3:134203818-134206451	Hela-S3	cervix:	n/a	chr3:134205718-134205732
22	POLR2A	chr3:134203524-134206687	GM12878	blood:	n/a	n/a
23	MYC	chr3:134205599-134206205	MCF10A-Er-Src	breast:	n/a	n/a
24	CREB1	chr3:134205448-134206661	GM12878	blood:	n/a	n/a
25	JUND	chr3:134203600-134206538	K562	blood:	n/a	chr3:134204835-134204844 chr3:134204833-134204842 chr3:134204834-134204843
26	CREB1	chr3:134205565-134206074	GM12878	blood:	n/a	n/a
27	POLR2A	chr3:134206046-134206302	HepG2	liver:	n/a	n/a
28	TBP	chr3:134205646-134206584	GM12878	blood:	n/a	n/a
29	GATA3	chr3:134205976-134206513	T-47D	breast:	n/a	chr3:134206292-134206302
30	MAZ	chr3:134203600-134206100	IMR90	lung:	n/a	chr3:134204836-134204846 chr3:134204853-134204862 chr3:134204852-134204863
31	POLR2A	chr3:134203710-134206372	K562	blood:	n/a	n/a
32	POLR2A	chr3:134203252-134206990	GM12891	blood:	n/a	n/a
33	MTA3	chr3:134203486-134206673	GM12878	blood:	n/a	n/a
34	NFIC	chr3:134205941-134206728	GM12878	blood:	n/a	n/a
35	CHD1	chr3:134203084-134207232	IMR90	lung:	n/a	chr3:134206506-134206516
36	ESR1	chr3:134206060-134206590	T-47D	breast:	n/a	n/a
37	POLR2A	chr3:134203657-134206629	GM12892	blood:	n/a	n/a
38	POLR2A	chr3:134203309-134207157	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:134066447..134072766-chr3:134202428..134206376,9	MCF-7	breast:
2	chr3:134074631..134077411-chr3:134204905..134207486,2	MCF-7	breast:
3	chr3:134027625..134034860-chr3:134199305..134206618,11	MCF-7	breast:
4	chr3:134081380..134086335-chr3:134201546..134208103,7	MCF-7	breast:
5	chr3:134089711..134094738-chr3:134202793..134208651,12	MCF-7	breast:
6	chr3:134091805..134100491-chr3:134198620..134206897,15	MCF-7	breast:
7	chr3:134072948..134076764-chr3:134201781..134206077,4	MCF-7	breast:

Variant related genes	Relation type
ANAPC13	TF binding region
ENSG00000214289	Chromatin interaction
ENSG00000114019	Chromatin interaction
ENSG00000260633	Chromatin interaction
ENSG00000240006	Chromatin interaction

Extended variants
information (count: 202 )
Associated
traits (count: 30 )

rSNPs within LD-proxies of this variant (count:195)

rs_ID	r²[population]
rs10804632	0.89[ASN][1000 genomes]
rs10935113	0.89[EUR][1000 genomes]
rs10935120	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1138273	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11706117	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11708531	0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11915964	0.87[CEU][hapmap];0.85[TSI][hapmap]
rs11919350	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11919458	0.80[ASN][1000 genomes]
rs11927068	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11928499	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12490835	0.91[CEU][hapmap];0.84[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12492930	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12637301	0.83[CEU][hapmap]
rs12637751	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13059720	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13065405	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13065773	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13081177	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13081688	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13087875	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13089566	0.87[CEU][hapmap]
rs13089966	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13096604	0.96[CEU][hapmap];0.93[CHB][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13316205	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1357762	0.95[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1357764	0.87[CEU][hapmap]
rs1498718	1.00[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534025	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs1534026	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1534027	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1534028	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1534030	0.83[ASW][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap]
rs17694011	0.91[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1814336	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1814337	0.91[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1863911	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1863912	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1863913	0.94[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1874883	0.96[CEU][hapmap];0.86[CHB][hapmap];0.80[CHD][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1880375	0.83[CEU][hapmap]
rs1880376	0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1880377	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1917130	0.90[CEU][hapmap];0.85[CHB][hapmap]
rs2056603	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap]
rs2177601	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2177602	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241556	0.96[CEU][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs2293293	0.83[ASW][hapmap];0.83[CEU][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap]
rs2293294	0.83[CEU][hapmap]
rs2370578	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2370641	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2370642	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2373865	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28409322	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28702610	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2887797	0.96[CEU][hapmap];0.93[CHB][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2888670	0.82[CEU][hapmap]
rs34029813	0.86[EUR][1000 genomes]
rs35718987	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35933983	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36006513	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3846055	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3846056	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3856729	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4074521	0.83[CEU][hapmap];0.83[TSI][hapmap]
rs4074522	0.83[CEU][hapmap];0.83[TSI][hapmap]
rs4245903	0.83[CEU][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap]
rs4245907	0.87[CEU][hapmap]
rs4306899	0.82[CEU][hapmap]
rs4309773	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4367113	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4417907	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4435682	0.87[CEU][hapmap]
rs4498009	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4539979	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4572812	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4955485	0.86[ASN][1000 genomes]
rs4955525	0.83[CEU][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap]
rs4955526	0.83[ASW][hapmap];0.83[CEU][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap]
rs4955534	0.83[CEU][hapmap]
rs4955542	0.82[CEU][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap]
rs4955555	0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4974478	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4974480	0.95[CEU][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4974481	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4974483	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4974484	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4974493	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55913793	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56899746	0.80[ASN][1000 genomes]
rs62269547	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6439484	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6439487	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6439492	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6763088	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6763093	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6763188	0.86[CEU][hapmap]
rs6765505	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6766818	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6766897	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs6768323	0.95[CEU][hapmap];0.86[CHB][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6769885	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6772406	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6772896	0.96[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6775611	0.87[CEU][hapmap];0.85[TSI][hapmap]
rs6776203	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6782128	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6782563	0.86[ASN][1000 genomes]
rs6785027	0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6787371	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6790338	0.91[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6790466	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6793487	0.86[ASN][1000 genomes]
rs6799110	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799543	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6800862	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6801596	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6802654	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6804770	0.96[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6805388	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs6806417	0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6806810	0.83[CEU][hapmap]
rs7356093	0.95[CEU][hapmap];0.84[CHB][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7371896	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7372770	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7373874	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7374158	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7374325	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7427492	0.95[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7428326	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7429866	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7432268	0.93[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7433663	0.84[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7611828	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7619451	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7623567	0.87[CEU][hapmap]
rs7626557	0.86[CEU][hapmap]
rs7627654	0.87[EUR][1000 genomes]
rs7627726	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7630874	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7637227	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7648990	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7649910	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7653807	0.87[CEU][hapmap];0.85[TSI][hapmap]
rs9289471	0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9289475	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9289476	0.96[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9289478	0.95[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs934093	0.87[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9756173	0.80[ASN][1000 genomes]
rs9809619	0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9813774	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9814567	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9815297	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9815894	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9815983	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9819532	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9820150	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9820425	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9824185	0.83[CEU][hapmap]
rs9826496	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9827672	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9827987	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9828815	0.96[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9829092	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9832785	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9833753	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9834755	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9835204	0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9838834	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9841180	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs9841212	0.89[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.91[LWK][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9841371	0.86[CEU][hapmap]
rs9844537	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9847788	0.96[CEU][hapmap]
rs9850015	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9851441	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs9854299	0.96[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9855013	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9857242	0.83[CEU][hapmap];0.87[MKK][hapmap];0.85[TSI][hapmap]
rs9857995	0.83[ASW][hapmap];0.83[CEU][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap]
rs9863786	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9864346	0.95[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap]
rs9869981	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9870262	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9871305	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9876658	0.96[CEU][hapmap];0.82[GIH][hapmap];0.91[LWK][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9883753	1.00[CEU][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9884031	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9968172	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9985341	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9985356	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9989967	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9990351	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv33705	chr3:134201034-134210747	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:30)

SNP	Gene	Cis/trans	Tissue	Source
rs3932818	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs3932818	ANAPC13	cis	Stomach	GTEx
rs3932818	CEP63	cis	parietal	SCAN
rs3932818	ANAPC13	cis	Esophagus Mucosa	GTEx
rs3932818	ANAPC13	cis	multi-tissue	Pritchard
rs3932818	ANAPC13	cis	Thyroid	GTEx
rs3932818	ANAPC13	cis	Artery Tibial	GTEx
rs3932818	ANAPC13	cis	Muscle Skeletal	GTEx
rs3932818	ANAPC13	cis	Nerve Tibial	GTEx
rs3932818	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs3932818	CEP63	cis	Nerve Tibial	GTEx
rs3932818	ANAPC13	cis	parietal	SCAN
rs3932818	CEP63	cis	Esophagus Muscularis	GTEx
rs3932818	TXNDC6	cis	cerebellum	SCAN
rs3932818	CEP63	cis	Artery Tibial	GTEx
rs3932818	ANAPC13	cis	lung	GTEx
rs3932818	CEP63	cis	Skin Sun Exposed Lower leg	GTEx
rs3932818	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs3932818	ANAPC13	cis	Esophagus Muscularis	GTEx
rs3932818	ANAPC13	cis	Heart Left Ventricle	GTEx
rs3932818	ANAPC13	cis	Skin Sun Exposed Lower leg	GTEx
rs3932818	CEP63	cis	Esophagus Mucosa	GTEx
rs3932818	KY	cis	cerebellum	SCAN
rs3932818	ANAPC13	cis	lymphoblastoid	seeQTL
rs3932818	ANAPC13	cis	Artery Aorta	GTEx
rs3932818	ANAPC13	cis	cerebellum	SCAN
rs3932818	CEP63	cis	lung	GTEx
rs3932818	EPHB1	cis	cerebellum	SCAN
rs3932818	CEP63	cis	Whole Blood	GTEx
rs3932818	CEP63	cis	Muscle Skeletal	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134203000-134206400	Active TSS	GM12878-XiMat	blood
2	chr3:134203400-134206200	Active TSS	Right Atrium	heart
3	chr3:134203400-134206600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr3:134203600-134206400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr3:134203600-134206400	Active TSS	Psoas Muscle	Psoas
6	chr3:134203800-134206200	Active TSS	A549	lung
7	chr3:134203800-134206400	Active TSS	Right Ventricle	heart
8	chr3:134203800-134206600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:134203800-134206600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:134203800-134206800	Active TSS	K562	blood
11	chr3:134203800-134207000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr3:134204000-134206200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:134204000-134206200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:134204000-134206200	Active TSS	Primary T cells fromperipheralblood	blood
15	chr3:134204000-134206200	Active TSS	Hela-S3	cervix
16	chr3:134204000-134206400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:134204000-134206400	Active TSS	Fetal Brain Male	brain
18	chr3:134204000-134206400	Active TSS	Fetal Muscle Leg	muscle
19	chr3:134204000-134206400	Active TSS	Fetal Thymus	thymus
20	chr3:134204000-134206400	Active TSS	Thymus	Thymus
21	chr3:134204000-134206400	Active TSS	NHLF	lung
22	chr3:134204200-134206200	Active TSS	Brain Germinal Matrix	brain
23	chr3:134204200-134206200	Active TSS	NHEK	skin
24	chr3:134204200-134206400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr3:134204200-134206600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:134204200-134206600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:134204400-134206200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:134204400-134206200	Active TSS	Brain Cingulate Gyrus	brain
29	chr3:134205200-134206200	Active TSS	HepG2	liver
30	chr3:134205200-134206600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:134205200-134206800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr3:134205200-134206800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr3:134205400-134206200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr3:134205400-134206200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr3:134205400-134206400	Flanking Active TSS	HMEC	breast
36	chr3:134205400-134206600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr3:134205400-134206600	Flanking Active TSS	NH-A	brain
38	chr3:134205400-134207000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:134205400-134207600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr3:134205600-134206200	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr3:134205600-134206200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr3:134205600-134206200	Weak transcription	Small Intestine	intestine
43	chr3:134205600-134206200	Weak transcription	Spleen	Spleen
44	chr3:134205600-134206400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr3:134205600-134206400	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr3:134205600-134206400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:134205600-134206400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr3:134205600-134206400	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr3:134205600-134206400	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr3:134205600-134206400	Flanking Active TSS	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links