Variant report

Variant	rs3846055
Chromosome Location	chr3:134203973-134203974
allele	A/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	chr3:134203769-134205344	SK-N-MC	brain:	n/a	n/a
2	USF1	chr3:134203811-134205272	HCT-116	colon:	n/a	chr3:134204156-134204167 chr3:134204554-134204570
3	ATF2	chr3:134203633-134205255	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:134203614-134205995	GM12892	blood:	n/a	n/a
5	JUND	chr3:134203467-134205975	SK-N-SH	brain:	n/a	chr3:134204835-134204844 chr3:134204833-134204842 chr3:134204834-134204843
6	TBL1XR1	chr3:134203543-134205777	GM12878	blood:	n/a	n/a
7	POLR2A	chr3:134203719-134205450	HepG2	liver:	n/a	n/a
8	YY1	chr3:134203808-134205602	GM12878	blood:	n/a	chr3:134205117-134205128 chr3:134205141-134205155 chr3:134204839-134204850
9	HA-E2F1	chr3:134203831-134205599	MCF-7	breast:	n/a	chr3:134205230-134205239 chr3:134204751-134204760
10	POLR2A	chr3:134203788-134206592	Raji	blood:	n/a	n/a
11	MAX	chr3:134203813-134205882	Hela-S3	cervix:	n/a	chr3:134204836-134204846 chr3:134204853-134204862 chr3:134204852-134204863
12	POLR2A	chr3:134203488-134205778	HL-60	blood:	n/a	n/a
13	POLR2A	chr3:134203827-134204135	K562	blood:	n/a	n/a
14	POLR2A	chr3:134203714-134205584	GM12891	blood:	n/a	n/a
15	POLR2A	chr3:134203331-134205514	HUVEC	blood vessel:	n/a	n/a
16	MYC	chr3:134203881-134205693	Hela-S3	cervix:	n/a	chr3:134204836-134204846 chr3:134204853-134204862 chr3:134204852-134204863
17	ELF1	chr3:134203803-134205150	HepG2	liver:	n/a	chr3:134203988-134203999 chr3:134203988-134203999 chr3:134203987-134204000
18	MAZ	chr3:134203929-134205391	GM12878	blood:	n/a	chr3:134204836-134204846 chr3:134204853-134204862 chr3:134204852-134204863
19	STAT5A	chr3:134203804-134205877	GM12878	blood:	n/a	chr3:134204582-134204590 chr3:134204572-134204580 chr3:134204836-134204848 chr3:134203985-134204005 chr3:134204838-134204850 chr3:134204837-134204849
20	E2F6	chr3:134203750-134205534	K562	blood:	n/a	chr3:134205230-134205239 chr3:134204751-134204760
21	GTF2F1	chr3:134203856-134205264	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr3:134203608-134205940	GM12891	blood:	n/a	n/a
23	POLR2A	chr3:134203428-134205671	GM15510	blood:	n/a	n/a
24	POLR2A	chr3:134203725-134205974	MCF-7	breast:	n/a	n/a
25	POLR2A	chr3:134203190-134205992	K562	blood:	n/a	n/a
26	JUND	chr3:134203775-134205874	GM12878	blood:	n/a	chr3:134204835-134204844 chr3:134204833-134204842 chr3:134204834-134204843
27	POLR2A	chr3:134203815-134204438	GM12878	blood:	n/a	n/a
28	IRF1	chr3:134203725-134205298	K562	blood:	n/a	chr3:134204825-134204839
29	BHLHE40	chr3:134203785-134205556	HepG2	liver:	n/a	chr3:134204554-134204570
30	USF1	chr3:134203934-134205227	ECC-1	luminal epithelium:	n/a	chr3:134204156-134204167 chr3:134204554-134204570
31	NFATC1	chr3:134203770-134205374	GM12878	blood:	n/a	n/a
32	MYBL2	chr3:134203952-134205255	HepG2	liver:	n/a	n/a
33	TBP	chr3:134203451-134205299	GM12878	blood:	n/a	n/a
34	SIN3A	chr3:134203865-134205961	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr3:134203512-134206043	HUVEC	blood vessel:	n/a	n/a
36	EP300	chr3:134203900-134205260	GM12878	blood:	n/a	n/a
37	MAZ	chr3:134203835-134204165	Hela-S3	cervix:	n/a	n/a
38	USF1	chr3:134203911-134205344	SK-N-SH	brain:	n/a	chr3:134204156-134204167 chr3:134204554-134204570
39	MYC	chr3:134203557-134205295	K562	blood:	n/a	chr3:134204836-134204846 chr3:134204853-134204862 chr3:134204852-134204863
40	GATA1	chr3:134203739-134206558	PBDE	blood:	n/a	chr3:134206292-134206302 chr3:134206514-134206523
41	POLR2A	chr3:134201396-134207240	IMR90	lung:	n/a	n/a
42	POLR2A	chr3:134203826-134205619	K562	blood:	n/a	n/a
43	POLR2A	chr3:134203678-134206074	SK-N-MC	brain:	n/a	n/a
44	PBX3	chr3:134203855-134205269	SK-N-SH	brain:	n/a	n/a
45	RCOR1	chr3:134203745-134205844	K562	blood:	n/a	n/a
46	SP1	chr3:134203444-134205590	HCT-116	colon:	n/a	chr3:134204839-134204851 chr3:134204828-134204838 chr3:134204841-134204850 chr3:134204828-134204838 chr3:134204839-134204851
47	POLR2A	chr3:134203444-134206374	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr3:134203973-134204215	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr3:134203373-134205923	HepG2	liver:	n/a	n/a
50	REST	chr3:134203765-134206179	H1-neurons	neurons:	n/a	chr3:134205505-134205512

No.	Distal block	Cell Line	Cell type
1	chr3:134203528..134205442-chr3:134316408..134318082,2	MCF-7	breast:
2	chr3:134066447..134072766-chr3:134202428..134206376,9	MCF-7	breast:
3	chr3:134107138..134109497-chr3:134202538..134204336,2	MCF-7	breast:
4	chr3:133969506..133971460-chr3:134202147..134204798,2	K562	blood:
5	chr3:134027625..134034860-chr3:134199305..134206618,11	MCF-7	breast:
6	chr3:134081380..134086335-chr3:134201546..134208103,7	MCF-7	breast:
7	chr3:134203423..134206037-chr3:135913664..135915183,2	MCF-7	breast:
8	chr3:134089711..134094738-chr3:134202793..134208651,12	MCF-7	breast:
9	chr3:134068339..134071562-chr3:134203031..134205941,6	MCF-7	breast:
10	chr3:134091805..134100491-chr3:134198620..134206897,15	MCF-7	breast:
11	chr3:134072948..134076764-chr3:134201781..134206077,4	MCF-7	breast:

Variant related genes	Relation type
ANAPC13	TF binding region
CEP63	TF binding region
ENSG00000240006	Chromatin interaction
ENSG00000214289	Chromatin interaction
ENSG00000260633	Chromatin interaction
ENSG00000163785	Chromatin interaction
ENSG00000154928	Chromatin interaction
ENSG00000114019	Chromatin interaction
ENSG00000174579	Chromatin interaction

Extended variants
information (count: 185 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs10804632	0.83[ASN][1000 genomes]
rs10935113	0.90[EUR][1000 genomes]
rs10935120	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1138273	0.81[JPT][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11706117	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11708531	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11919350	0.81[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11919458	0.84[ASN][1000 genomes]
rs11927068	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11928499	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12490835	0.81[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12492930	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12637751	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13059720	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13064209	0.90[JPT][hapmap]
rs13065405	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13065773	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13075117	0.90[JPT][hapmap]
rs13075253	0.90[JPT][hapmap]
rs13076825	0.90[JPT][hapmap]
rs13081177	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13081688	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13084192	0.90[JPT][hapmap]
rs13087875	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13088413	0.80[ASN][1000 genomes]
rs13089966	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13096604	0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13098546	0.90[JPT][hapmap]
rs13316205	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1357762	0.83[CHB][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1357764	0.90[JPT][hapmap]
rs1498718	0.83[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1534025	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1534026	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1534027	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1534028	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17694011	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1814336	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1814337	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1863911	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1863912	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1863913	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1874883	0.89[JPT][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880376	0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1880377	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1917130	0.80[ASN][1000 genomes]
rs2177601	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2177602	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2241556	0.91[EUR][1000 genomes]
rs2293294	0.90[JPT][hapmap]
rs2370578	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2370641	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2370642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2373865	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28409322	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28702610	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2887797	0.83[CHB][hapmap];0.90[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34029813	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35718987	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35933983	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36006513	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3846056	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3856729	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3932818	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4074521	0.89[JPT][hapmap]
rs4074522	0.89[JPT][hapmap]
rs4245907	0.81[JPT][hapmap]
rs4306899	0.89[JPT][hapmap]
rs4309773	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4367113	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4417907	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4435682	0.90[JPT][hapmap]
rs4498009	0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4539979	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4572812	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4634170	0.89[JPT][hapmap]
rs4955547	0.89[JPT][hapmap]
rs4955548	0.90[JPT][hapmap]
rs4955555	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4974478	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4974480	0.90[EUR][1000 genomes]
rs4974481	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4974483	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4974484	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4974493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55913793	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56899746	0.84[ASN][1000 genomes]
rs62269547	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62269560	0.80[ASN][1000 genomes]
rs6439484	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6439487	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6439492	0.85[EUR][1000 genomes]
rs6763088	0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6763093	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6764764	0.88[JPT][hapmap]
rs6765505	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6766818	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6766897	0.94[EUR][1000 genomes]
rs6768323	0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6769885	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6772406	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6772896	0.83[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776203	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6782128	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6785027	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6787371	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6790338	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6790466	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6799110	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6799543	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6800862	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6801596	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6802654	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6804770	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6805388	0.89[EUR][1000 genomes]
rs6806417	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7356093	0.81[JPT][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7371896	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7372770	0.88[EUR][1000 genomes]
rs7373874	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7374158	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7374325	0.81[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7427492	0.81[JPT][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7428326	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7429866	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7432268	0.83[CHB][hapmap];0.90[JPT][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7433663	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7611828	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7619451	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7627654	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7627726	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7630874	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7637227	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7648990	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7649910	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7653807	0.89[JPT][hapmap]
rs9289471	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9289475	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9289476	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9289478	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs934093	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9809619	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9813774	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9814567	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9815297	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9815894	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9815983	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9819532	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9820150	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9820425	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9826496	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9827672	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9827987	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9828815	0.83[CHB][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9829092	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9832785	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9833753	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9834755	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9835204	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9838834	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9841180	0.93[EUR][1000 genomes]
rs9841212	0.94[EUR][1000 genomes]
rs9844537	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9850015	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9854299	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9855013	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9863786	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9869981	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9870262	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9871305	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9876658	0.90[EUR][1000 genomes]
rs9883753	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9884031	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9968172	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9985341	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9985356	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9989967	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9990351	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[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:24)

SNP	Gene	Cis/trans	Tissue	Source
rs3846055	ANAPC13	cis	Artery Tibial	GTEx
rs3846055	CEP63	cis	Nerve Tibial	GTEx
rs3846055	ANAPC13	cis	lung	GTEx
rs3846055	ANAPC13	cis	Muscle Skeletal	GTEx
rs3846055	ANAPC13	cis	Nerve Tibial	GTEx
rs3846055	CEP63	cis	Esophagus Muscularis	GTEx
rs3846055	CEP63	cis	Muscle Skeletal	GTEx
rs3846055	CEP63	cis	Esophagus Mucosa	GTEx
rs3846055	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs3846055	ANAPC13	cis	Artery Aorta	GTEx
rs3846055	ANAPC13	cis	Skin Sun Exposed Lower leg	GTEx
rs3846055	ANAPC13	cis	Whole Blood	GTEx
rs3846055	ANAPC13	cis	Thyroid	GTEx
rs3846055	CEP63	cis	lung	GTEx
rs3846055	ANAPC13	cis	Heart Left Ventricle	GTEx
rs3846055	ANAPC13	cis	Esophagus Mucosa	GTEx
rs3846055	ANAPC13	cis	multi-tissue	Pritchard
rs3846055	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs3846055	ANAPC13	cis	Esophagus Muscularis	GTEx
rs3846055	CEP63	cis	Skin Sun Exposed Lower leg	GTEx
rs3846055	ANAPC13	cis	Stomach	GTEx
rs3846055	CEP63	cis	Whole Blood	GTEx
rs3846055	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs3846055	CEP63	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134201400-134204400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:134201800-134204400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:134201800-134204400	Flanking Active TSS	HUVEC	blood vessel
4	chr3:134202000-134204000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:134202000-134204200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:134202200-134204200	Flanking Active TSS	NHEK	skin
7	chr3:134202800-134204000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr3:134202800-134204400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:134203000-134206400	Active TSS	GM12878-XiMat	blood
10	chr3:134203200-134204000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr3:134203200-134204000	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr3:134203200-134204000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:134203200-134204000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr3:134203200-134204000	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr3:134203200-134204000	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr3:134203200-134204000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:134203200-134204000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr3:134203200-134204000	Flanking Active TSS	Fetal Lung	lung
19	chr3:134203200-134204000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr3:134203200-134204000	Flanking Active TSS	Hela-S3	cervix
21	chr3:134203200-134204000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr3:134203200-134204000	Flanking Active TSS	NHLF	lung
23	chr3:134203200-134204200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:134203200-134204200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr3:134203200-134204200	Flanking Active TSS	Liver	Liver
26	chr3:134203200-134204200	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr3:134203200-134204200	Flanking Active TSS	HMEC	breast
28	chr3:134203200-134204200	Flanking Active TSS	HSMM	muscle
29	chr3:134203200-134204200	Flanking Active TSS	NHDF-Ad	bronchial
30	chr3:134203200-134204400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:134203200-134204400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr3:134203200-134204400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:134203200-134204400	Flanking Active TSS	Osteobl	bone
34	chr3:134203400-134204000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:134203400-134204000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:134203400-134204000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:134203400-134204000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:134203400-134204000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr3:134203400-134204000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr3:134203400-134204000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:134203400-134204000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr3:134203400-134204000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:134203400-134204000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr3:134203400-134204000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr3:134203400-134204000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr3:134203400-134204000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr3:134203400-134204000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr3:134203400-134204000	Flanking Active TSS	Fetal Kidney	kidney
49	chr3:134203400-134204000	Flanking Active TSS	Fetal Thymus	thymus
50	chr3:134203400-134204000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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Variant report

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