Variant report

Variant	rs1498718
Chromosome Location	chr3:134205920-134205921
allele	A/G
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	chr3:134203614-134205995	GM12892	blood:	n/a	n/a
2	JUND	chr3:134203467-134205975	SK-N-SH	brain:	n/a	chr3:134204835-134204844 chr3:134204833-134204842 chr3:134204834-134204843
3	CREB1	chr3:134205556-134206111	K562	blood:	n/a	n/a
4	POLR2A	chr3:134203788-134206592	Raji	blood:	n/a	n/a
5	POLR2A	chr3:134203608-134205940	GM12891	blood:	n/a	n/a
6	POLR2A	chr3:134203725-134205974	MCF-7	breast:	n/a	n/a
7	POLR2A	chr3:134203190-134205992	K562	blood:	n/a	n/a
8	IRF1	chr3:134205717-134206570	K562	blood:	n/a	chr3:134206467-134206476 chr3:134206532-134206542 chr3:134206504-134206518 chr3:134206531-134206543
9	STAT3	chr3:134205728-134205928	MCF10A-Er-Src	breast:	n/a	n/a
10	SIN3A	chr3:134203865-134205961	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr3:134203512-134206043	HUVEC	blood vessel:	n/a	n/a
12	BRCA1	chr3:134205630-134205963	Hela-S3	cervix:	n/a	n/a
13	GATA1	chr3:134203739-134206558	PBDE	blood:	n/a	chr3:134206292-134206302 chr3:134206514-134206523
14	POLR2A	chr3:134201396-134207240	IMR90	lung:	n/a	n/a
15	POLR2A	chr3:134205666-134205936	GM12891	blood:	n/a	n/a
16	POLR2A	chr3:134203678-134206074	SK-N-MC	brain:	n/a	n/a
17	SMC3	chr3:134204488-134205985	Hela-S3	cervix:	n/a	chr3:134205372-134205382 chr3:134205216-134205224
18	POLR2A	chr3:134203444-134206374	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr3:134203373-134205923	HepG2	liver:	n/a	n/a
20	REST	chr3:134203765-134206179	H1-neurons	neurons:	n/a	chr3:134205505-134205512
21	POLR2A	chr3:134203468-134206090	GM12892	blood:	n/a	n/a
22	POLR2A	chr3:134203480-134206472	PBDE	blood:	n/a	n/a
23	CHD1	chr3:134203656-134206365	GM12878	blood:	n/a	n/a
24	POLR2A	chr3:134203562-134206051	GM12892	blood:	n/a	n/a
25	HEY1	chr3:134204182-134205959	K562	blood:	n/a	n/a
26	POLR2A	chr3:134203623-134205944	GM12891	blood:	n/a	n/a
27	RUNX3	chr3:134203586-134205941	GM12878	blood:	n/a	n/a
28	ATF1	chr3:134205613-134205989	K562	blood:	n/a	n/a
29	MXI1	chr3:134203237-134206665	SK-N-SH	brain:	n/a	chr3:134205393-134205402
30	POLR2A	chr3:134203367-134206821	GM12878	blood:	n/a	n/a
31	POLR2A	chr3:134203531-134206360	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr3:134203710-134206038	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr3:134202879-134206006	K562	blood:	n/a	n/a
34	POLR2A	chr3:134203767-134206007	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr3:134203316-134206681	GM18505	blood:	n/a	n/a
36	POLR2A	chr3:134203743-134206587	GM19099	blood:	n/a	n/a
37	POLR2A	chr3:134203872-134205942	H1-hESC	embryonic stem cell:	n/a	n/a
38	HCFC1	chr3:134203632-134206480	Hela-S3	cervix:	n/a	n/a
39	RFX5	chr3:134203818-134206451	Hela-S3	cervix:	n/a	chr3:134205718-134205732
40	POLR2A	chr3:134203524-134206687	GM12878	blood:	n/a	n/a
41	MYC	chr3:134205599-134206205	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr3:134203737-134206038	HL-60	blood:	n/a	n/a
43	POLR2A	chr3:134204299-134205958	H1-neurons	neurons:	n/a	n/a
44	FOS	chr3:134205643-134205999	MCF10A-Er-Src	breast:	n/a	n/a
45	CHD1	chr3:134205467-134206011	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr3:134205448-134206661	GM12878	blood:	n/a	n/a
47	POLR2A	chr3:134204341-134205958	GM12891	blood:	n/a	n/a
48	POLR2A	chr3:134203587-134206009	PANC-1	pancreas:	n/a	n/a
49	RUNX3	chr3:134205497-134205991	GM12878	blood:	n/a	n/a
50	JUND	chr3:134203600-134206538	K562	blood:	n/a	chr3:134204835-134204844 chr3:134204833-134204842 chr3:134204834-134204843

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	chr3:133524847..133526590-chr3:134204244..134205959,2	MCF-7	breast:
6	chr3:134203423..134206037-chr3:135913664..135915183,2	MCF-7	breast:
7	chr3:134089711..134094738-chr3:134202793..134208651,12	MCF-7	breast:
8	chr3:134068339..134071562-chr3:134203031..134205941,6	MCF-7	breast:
9	chr3:134091805..134100491-chr3:134198620..134206897,15	MCF-7	breast:
10	chr3:134072948..134076764-chr3:134201781..134206077,4	MCF-7	breast:

Variant related genes	Relation type
ANAPC13	TF binding region
ENSG00000240006	Chromatin interaction
ENSG00000114019	Chromatin interaction
ENSG00000174579	Chromatin interaction
ENSG00000144867	Chromatin interaction
ENSG00000260633	Chromatin interaction
ENSG00000214289	Chromatin interaction

Extended variants
information (count: 225 )
Associated
traits (count: 30 )

rSNPs within LD-proxies of this variant (count:218)

rs_ID	r²[population]
rs10804632	0.89[ASN][1000 genomes]
rs10935113	0.89[EUR][1000 genomes]
rs10935120	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1138273	1.00[CEU][hapmap];0.93[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	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[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	0.91[CEU][hapmap];0.85[TSI][hapmap]
rs11919350	1.00[CEU][hapmap];0.93[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	0.95[CEU][hapmap];0.92[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12492930	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12637301	0.87[CEU][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap]
rs12637751	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.85[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]
rs13064209	0.84[CEU][hapmap]
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]
rs13075117	0.83[CEU][hapmap]
rs13075253	0.84[CEU][hapmap]
rs13076825	0.83[CEU][hapmap]
rs13081177	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13081688	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13084192	0.84[CEU][hapmap]
rs13087875	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13089566	0.91[CEU][hapmap]
rs13089966	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13096604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13098546	0.84[CEU][hapmap]
rs13316205	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1357762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1357764	0.91[CEU][hapmap]
rs1534025	1.00[CEU][hapmap];0.93[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];0.83[CEU][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap]
rs17694011	0.95[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1814336	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1814337	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[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];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.91[LWK][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1874883	1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1880375	0.87[CEU][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap]
rs1880376	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1880377	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1917130	0.95[CEU][hapmap];0.92[CHB][hapmap]
rs2056603	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[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	1.00[CEU][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs2293293	0.83[ASW][hapmap];0.88[CEU][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];0.83[YRI][hapmap]
rs2293294	0.87[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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2888670	0.87[CEU][hapmap];0.86[JPT][hapmap];0.83[YRI][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	0.83[CHB][hapmap];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]
rs3932818	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]
rs4074521	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs4074522	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs4245903	0.88[CEU][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap]
rs4245905	0.83[CEU][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap]
rs4245907	0.91[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	0.91[CEU][hapmap]
rs4437193	0.80[CEU][hapmap]
rs4456908	0.86[JPT][hapmap]
rs4498009	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4539979	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4543053	0.80[CEU][hapmap]
rs4572812	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4634170	0.84[CEU][hapmap]
rs4955485	0.86[ASN][1000 genomes]
rs4955525	0.88[CEU][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.84[TSI][hapmap];0.83[YRI][hapmap]
rs4955526	0.83[ASW][hapmap];0.88[CEU][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.83[YRI][hapmap]
rs4955534	0.87[CEU][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap]
rs4955542	0.87[CEU][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]
rs4955546	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs4955547	0.84[CEU][hapmap]
rs4955555	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[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	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[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	0.97[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	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[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	1.00[CEU][hapmap];0.93[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	0.91[CEU][hapmap]
rs6764764	0.84[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	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6768323	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6769885	0.95[CEU][hapmap];0.93[CHB][hapmap];0.93[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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6775611	0.91[CEU][hapmap];0.85[TSI][hapmap]
rs6776203	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6779326	0.84[CEU][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap]
rs6782128	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6782563	0.86[ASN][1000 genomes]
rs6785027	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[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	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6790466	0.83[CHB][hapmap];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];0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6801596	0.92[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	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6805388	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6806417	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6806810	0.88[CEU][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap]
rs7356093	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7371896	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[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	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7427492	1.00[CEU][hapmap];0.93[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]
rs7430034	0.83[CEU][hapmap];0.85[JPT][hapmap]
rs7432268	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7433663	0.92[CHB][hapmap];0.92[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	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7623567	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs7626557	0.91[CEU][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap]
rs7627654	0.87[EUR][1000 genomes]
rs7627726	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7630874	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.85[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]
rs7648616	0.84[JPT][hapmap];0.85[YRI][hapmap]
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	0.91[CEU][hapmap];0.85[TSI][hapmap]
rs9289471	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[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	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9289478	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs934093	0.91[CEU][hapmap];0.93[CHB][hapmap];0.91[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]
rs9809344	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs9809619	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9813774	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9814567	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[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	0.88[CEU][hapmap];0.86[JPT][hapmap];0.83[YRI][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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[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	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[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]
rs9836401	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs9838119	0.84[CEU][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap]
rs9838467	0.84[CEU][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap]
rs9838834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9841180	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9841212	0.89[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.91[LWK][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9841371	0.91[CEU][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap]
rs9844537	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9847788	1.00[CEU][hapmap]
rs9848254	0.84[CEU][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap]
rs9850015	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9851441	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap]
rs9854299	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9855013	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9857242	0.88[CEU][hapmap];0.80[MEX][hapmap];0.87[MKK][hapmap];0.83[TSI][hapmap];0.83[YRI][hapmap]
rs9857995	0.83[ASW][hapmap];0.88[CEU][hapmap];0.86[JPT][hapmap];0.82[MKK][hapmap];0.83[TSI][hapmap];0.80[YRI][hapmap]
rs9863786	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9864346	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[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]
rs9871226	0.83[CEU][hapmap];0.85[JPT][hapmap]
rs9871305	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9876658	1.00[CEU][hapmap];0.82[GIH][hapmap];0.91[LWK][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9883753	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[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	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9985341	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9985356	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9989967	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9990351	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[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
rs1498718	ANAPC13	cis	Skin Sun Exposed Lower leg	GTEx
rs1498718	ANAPC13	cis	Muscle Skeletal	GTEx
rs1498718	ANAPC13	cis	Nerve Tibial	GTEx
rs1498718	EPHB1	cis	cerebellum	SCAN
rs1498718	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs1498718	ANAPC13	cis	Artery Tibial	GTEx
rs1498718	ANAPC13	cis	cerebellum	SCAN
rs1498718	CEP63	cis	Whole Blood	GTEx
rs1498718	CEP63	cis	Esophagus Muscularis	GTEx
rs1498718	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs1498718	CEP63	cis	parietal	SCAN
rs1498718	ANAPC13	cis	lymphoblastoid	seeQTL
rs1498718	ANAPC13	cis	Esophagus Muscularis	GTEx
rs1498718	ANAPC13	cis	Stomach	GTEx
rs1498718	TXNDC6	cis	cerebellum	SCAN
rs1498718	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs1498718	ANAPC13	cis	Artery Aorta	GTEx
rs1498718	ANAPC13	cis	multi-tissue	Pritchard
rs1498718	KY	cis	cerebellum	SCAN
rs1498718	ANAPC13	cis	parietal	SCAN
rs1498718	ANAPC13	cis	Heart Left Ventricle	GTEx
rs1498718	ANAPC13	cis	Thyroid	GTEx
rs1498718	ANAPC13	cis	Esophagus Mucosa	GTEx
rs1498718	CEP63	cis	Esophagus Mucosa	GTEx
rs1498718	ANAPC13	cis	lung	GTEx
rs1498718	CEP63	cis	lung	GTEx
rs1498718	CEP63	cis	Nerve Tibial	GTEx
rs1498718	CEP63	cis	Skin Sun Exposed Lower leg	GTEx
rs1498718	CEP63	cis	Artery Tibial	GTEx
rs1498718	CEP63	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 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	chr3:134203400-134206000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:134203400-134206000	Active TSS	Colonic Mucosa	Colon
4	chr3:134203400-134206000	Active TSS	Fetal Muscle Trunk	muscle
5	chr3:134203400-134206000	Active TSS	Ovary	ovary
6	chr3:134203400-134206200	Active TSS	Right Atrium	heart
7	chr3:134203400-134206600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr3:134203600-134206400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr3:134203600-134206400	Active TSS	Psoas Muscle	Psoas
10	chr3:134203800-134206000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:134203800-134206000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:134203800-134206000	Active TSS	Aorta	Aorta
13	chr3:134203800-134206000	Active TSS	Colon Smooth Muscle	Colon
14	chr3:134203800-134206000	Active TSS	Fetal Brain Female	brain
15	chr3:134203800-134206000	Active TSS	Fetal Intestine Small	intestine
16	chr3:134203800-134206000	Active TSS	Pancreas	Pancrea
17	chr3:134203800-134206000	Active TSS	Placenta Amnion	Placenta Amnion
18	chr3:134203800-134206000	Active TSS	Dnd41	blood
19	chr3:134203800-134206200	Active TSS	A549	lung
20	chr3:134203800-134206400	Active TSS	Right Ventricle	heart
21	chr3:134203800-134206600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr3:134203800-134206600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:134203800-134206800	Active TSS	K562	blood
24	chr3:134203800-134207000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr3:134204000-134206000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:134204000-134206000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:134204000-134206000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:134204000-134206000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr3:134204000-134206000	Active TSS	Duodenum Mucosa	Duodenum
30	chr3:134204000-134206000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr3:134204000-134206000	Active TSS	Fetal Heart	heart
32	chr3:134204000-134206000	Active TSS	Placenta	Placenta
33	chr3:134204000-134206200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:134204000-134206200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:134204000-134206200	Active TSS	Primary T cells fromperipheralblood	blood
36	chr3:134204000-134206200	Active TSS	Hela-S3	cervix
37	chr3:134204000-134206400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:134204000-134206400	Active TSS	Fetal Brain Male	brain
39	chr3:134204000-134206400	Active TSS	Fetal Muscle Leg	muscle
40	chr3:134204000-134206400	Active TSS	Fetal Thymus	thymus
41	chr3:134204000-134206400	Active TSS	Thymus	Thymus
42	chr3:134204000-134206400	Active TSS	NHLF	lung
43	chr3:134204200-134206000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:134204200-134206000	Active TSS	HSMM	muscle
45	chr3:134204200-134206000	Active TSS	HSMMtube	muscle
46	chr3:134204200-134206000	Active TSS	NHDF-Ad	bronchial
47	chr3:134204200-134206200	Active TSS	Brain Germinal Matrix	brain
48	chr3:134204200-134206200	Active TSS	NHEK	skin
49	chr3:134204200-134206400	Active TSS	H1 Cell Line	embryonic stem cell
50	chr3:134204200-134206600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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