Variant report

Variant	rs2279934
Chromosome Location	chr7:66205936-66205937
allele	C/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	chr7:66205218-66206323	GM12878	blood:	n/a	n/a
2	TCF12	chr7:66205243-66206393	ECC-1	luminal epithelium:	n/a	n/a
3	FOSL2	chr7:66205302-66206647	HepG2	liver:	n/a	chr7:66205832-66205841
4	POLR2A	chr7:66205222-66206566	A549	lung:	n/a	n/a
5	POLR2A	chr7:66204970-66206735	GM12892	blood:	n/a	n/a
6	ELF1	chr7:66205137-66206275	MCF-7	breast:	n/a	chr7:66205434-66205445 chr7:66205435-66205444 chr7:66205612-66205623 chr7:66205658-66205670 chr7:66205371-66205383 chr7:66205613-66205622 chr7:66206238-66206250
7	SREBP2	chr7:66205272-66206564	GM12878	blood:	n/a	n/a
8	TEAD4	chr7:66205776-66206142	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:66205221-66206433	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:66204697-66206885	U87	brain:	n/a	n/a
11	POLR2A	chr7:66205332-66206304	HEK293	kidney:	n/a	n/a
12	SPI1	chr7:66205127-66206014	GM12878	blood:	n/a	n/a
13	REST	chr7:66205017-66206597	H1-neurons	neurons:	n/a	chr7:66205704-66205717 chr7:66205697-66205707 chr7:66206234-66206244 chr7:66206322-66206336 chr7:66205704-66205717 chr7:66206361-66206374 chr7:66205437-66205455 chr7:66205923-66205936 chr7:66205701-66205714
14	GABPA	chr7:66205922-66206279	H1-hESC	embryonic stem cell:	n/a	chr7:66206253-66206262
15	TCF7L2	chr7:66205370-66206142	HCT-116	colon:	n/a	n/a
16	MAX	chr7:66205360-66205974	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr7:66204915-66206250	GM12878	blood:	n/a	chr7:66206236-66206250 chr7:66205369-66205380 chr7:66205487-66205498 chr7:66205663-66205677 chr7:66205704-66205718 chr7:66205666-66205675 chr7:66205836-66205845 chr7:66205834-66205845
18	MXI1	chr7:66205247-66206317	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:66205122-66206482	HUVEC	blood vessel:	n/a	n/a
20	NR2F2	chr7:66204481-66206561	K562	blood:	n/a	n/a
21	EP300	chr7:66205203-66206320	ECC-1	luminal epithelium:	n/a	chr7:66206237-66206253 chr7:66205698-66205714 chr7:66206246-66206262 chr7:66205615-66205622 chr7:66206234-66206250
22	POLR2A	chr7:66205162-66206530	A549	lung:	n/a	n/a
23	TAF1	chr7:66205159-66205941	K562	blood:	n/a	n/a
24	TBP	chr7:66205161-66205938	GM12878	blood:	n/a	n/a
25	RCOR1	chr7:66204964-66206433	K562	blood:	n/a	n/a
26	SMC3	chr7:66205268-66206426	Hela-S3	cervix:	n/a	n/a
27	HCFC1	chr7:66205255-66206198	K562	blood:	n/a	n/a
28	PAX5	chr7:66205012-66206054	GM12878	blood:	n/a	chr7:66205587-66205596
29	TAF1	chr7:66205156-66206290	SK-N-SH	brain:	n/a	n/a
30	CREB1	chr7:66205207-66205952	HepG2	liver:	n/a	n/a
31	RAD21	chr7:66205273-66206326	IMR90	lung:	n/a	chr7:66205515-66205527
32	POLR2A	chr7:66205149-66206942	SK-N-SH	brain:	n/a	n/a
33	CHD1	chr7:66204990-66206263	GM12878	blood:	n/a	chr7:66205738-66205748 chr7:66206110-66206120 chr7:66205667-66205677 chr7:66205672-66205682
34	POLR2A	chr7:66205202-66206587	U87	brain:	n/a	n/a
35	TBL1XR1	chr7:66205336-66206094	K562	blood:	n/a	n/a
36	TBP	chr7:66205233-66206104	K562	blood:	n/a	n/a
37	HEY1	chr7:66204596-66206690	K562	blood:	n/a	chr7:66206246-66206261 chr7:66206243-66206258 chr7:66205661-66205676 chr7:66206043-66206058 chr7:66205368-66205383
38	TEAD4	chr7:66204711-66206373	K562	blood:	n/a	n/a
39	ZNF263	chr7:66204848-66206424	HEK293-T-REx	kidney:	n/a	n/a
40	POLR2A	chr7:66205149-66205936	HepG2	liver:	n/a	n/a
41	SIN3AK20	chr7:66205144-66206130	MCF-7	breast:	n/a	n/a
42	POLR2A	chr7:66205054-66206538	MCF-7	breast:	n/a	n/a
43	MAX	chr7:66205156-66206284	GM12878	blood:	n/a	chr7:66206178-66206188 chr7:66206237-66206247
44	TAF1	chr7:66205203-66206341	ECC-1	luminal epithelium:	n/a	n/a
45	TAF1	chr7:66205238-66206568	HepG2	liver:	n/a	n/a
46	REST	chr7:66205206-66205941	HepG2	liver:	n/a	chr7:66205704-66205717 chr7:66205697-66205707 chr7:66205704-66205717 chr7:66205437-66205455 chr7:66205923-66205936 chr7:66205701-66205714
47	POLR2A	chr7:66205309-66206369	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr7:66204957-66206816	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr7:66205243-66206175	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr7:66205210-66206090	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:66117717..66119604-chr7:66204829..66207389,2	K562	blood:
2	chr7:66204928..66209821-chr7:66213597..66216412,7	MCF-7	breast:
3	chr7:66119315..66119930-chr7:66205425..66206247,2	NB4	blood:
4	chr7:66146728..66147607-chr7:66205638..66206158,2	NB4	blood:
5	chr7:66205725..66207353-chr7:66207678..66209182,2	MCF-7	breast:
6	chr7:66144687..66148625-chr7:66203954..66207507,6	K562	blood:
7	chr7:66021310..66024220-chr7:66204826..66206647,2	MCF-7	breast:
8	chr7:66119236..66121485-chr7:66204940..66206778,2	K562	blood:
9	chr7:66144717..66148625-chr7:66203954..66207507,5	K562	blood:
10	chr20:62612068..62612707-chr7:66205545..66206428,2	Hela-S3	cervix:
11	chr7:66203955..66208659-chr7:66209716..66215353,8	K562	blood:
12	chr7:66205494..66207120-chr7:66460055..66461810,2	MCF-7	breast:
13	chr15:78832192..78833048-chr7:66205633..66206174,2	Hela-S3	cervix:
14	chr7:66204784..66206359-chr7:66385620..66388278,2	MCF-7	breast:
15	chr3:50378036..50378624-chr7:66205521..66206190,2	Hela-S3	cervix:
16	chr7:66118548..66121026-chr7:66205734..66207315,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272831	TF binding region
ENSG00000154710	Chromatin interaction
ENSG00000126524	Chromatin interaction
ENSG00000177418	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000226824	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000235058	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000041357	Chromatin interaction
ENSG00000271064	Chromatin interaction
ENSG00000101161	Chromatin interaction

Extended variants
information (count: 236 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:231)

rs_ID	r²[population]
rs10499785	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12530546	0.92[EUR][1000 genomes]
rs12530947	0.95[EUR][1000 genomes]
rs12531374	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12531377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12531402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531690	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12531758	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532267	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532650	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12532888	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12533018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12533744	0.84[EUR][1000 genomes]
rs12533886	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533963	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534192	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12534355	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12534391	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534435	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534985	0.95[EUR][1000 genomes]
rs12535268	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12535321	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535363	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12535756	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12535766	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12536130	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12536586	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12537037	0.95[EUR][1000 genomes]
rs12537346	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537403	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537545	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12537771	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538126	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12538131	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12539116	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539191	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539522	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539696	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539749	0.95[EUR][1000 genomes]
rs12539848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12540312	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12540447	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12540455	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12540536	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17228285	0.92[EUR][1000 genomes]
rs17228728	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17229513	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17229674	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17230057	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17294397	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2075004	0.95[EUR][1000 genomes]
rs2279935	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286682	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286685	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286686	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28431850	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35279320	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3735150	0.95[EUR][1000 genomes]
rs3735152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3757420	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778911	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800813	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814466	0.95[EUR][1000 genomes]
rs3823608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4078168	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4276561	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4717301	0.95[EUR][1000 genomes]
rs4717305	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4717309	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4717311	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4717312	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4717313	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717314	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717316	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717318	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4717323	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4717324	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4718368	0.95[EUR][1000 genomes]
rs4718372	0.92[EUR][1000 genomes]
rs4718376	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718379	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718380	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718381	0.89[EUR][1000 genomes]
rs4718382	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718390	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718391	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718392	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718393	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718394	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718395	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718396	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718397	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4718407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718409	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464646	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464648	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464652	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464654	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464655	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464659	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465428	0.95[EUR][1000 genomes]
rs62465429	0.95[EUR][1000 genomes]
rs62465431	0.95[EUR][1000 genomes]
rs62465432	0.92[EUR][1000 genomes]
rs62465433	0.89[EUR][1000 genomes]
rs62465457	0.95[EUR][1000 genomes]
rs62465458	0.95[EUR][1000 genomes]
rs62465661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62465676	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465681	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465682	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465688	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465698	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465699	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62465700	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465701	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465705	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465706	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62465707	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62465709	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465710	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465712	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465713	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465714	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465716	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465730	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465734	0.84[EUR][1000 genomes]
rs62466081	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466083	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466084	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466085	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466086	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466087	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466090	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466091	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466122	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466123	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466125	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466126	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466127	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466128	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466133	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466134	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466136	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466137	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62466138	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466139	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466140	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466141	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466142	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466143	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466144	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466145	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466146	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466147	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466148	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466787	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466788	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466789	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466792	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466795	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62466797	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466798	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466799	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466801	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466802	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466803	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466805	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466806	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466847	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466848	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466849	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466852	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466856	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62466857	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466858	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467760	0.92[EUR][1000 genomes]
rs62467762	0.95[EUR][1000 genomes]
rs62467763	0.95[EUR][1000 genomes]
rs62467764	0.95[EUR][1000 genomes]
rs62467765	0.95[EUR][1000 genomes]
rs62467766	0.95[EUR][1000 genomes]
rs62467767	0.88[EUR][1000 genomes]
rs62467768	0.90[EUR][1000 genomes]
rs62467769	0.95[EUR][1000 genomes]
rs62467770	0.95[EUR][1000 genomes]
rs62467771	0.92[EUR][1000 genomes]
rs62467801	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467802	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467804	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467805	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467811	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62467814	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62467816	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62467856	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62468260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468261	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62468262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62468263	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469060	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469061	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62469062	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469064	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469066	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469067	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469069	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62469070	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469072	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7384751	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7781008	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7782418	0.90[ASN][1000 genomes]
rs9801144	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9801269	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv3401338	chr7:66147493-66206298	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv971490	chr7:66192193-66212423	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2279934	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66204200-66208000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:66204400-66207200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:66204400-66207400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr7:66204400-66207800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:66204600-66206600	Active TSS	Fetal Intestine Small	intestine
6	chr7:66204600-66206600	Active TSS	Thymus	Thymus
7	chr7:66204600-66206800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr7:66204600-66206800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:66204600-66206800	Active TSS	Fetal Kidney	kidney
10	chr7:66204600-66207000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:66204600-66207000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:66204600-66207000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:66204600-66207000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr7:66204600-66207000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:66204600-66207000	Active TSS	Colon Smooth Muscle	Colon
16	chr7:66204600-66207000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:66204600-66207000	Active TSS	Psoas Muscle	Psoas
18	chr7:66204600-66207000	Active TSS	Right Ventricle	heart
19	chr7:66204600-66207200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr7:66204600-66207400	Active TSS	HMEC	breast
21	chr7:66204600-66207600	Active TSS	NHDF-Ad	bronchial
22	chr7:66204600-66207800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:66204800-66206400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr7:66204800-66206600	Active TSS	Fetal Brain Female	brain
25	chr7:66204800-66206600	Active TSS	Fetal Intestine Large	intestine
26	chr7:66204800-66206800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:66204800-66206800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:66204800-66206800	Active TSS	Esophagus	oesophagus
29	chr7:66204800-66206800	Active TSS	Left Ventricle	heart
30	chr7:66204800-66206800	Active TSS	Lung	lung
31	chr7:66204800-66206800	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr7:66204800-66207000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr7:66204800-66207000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:66204800-66207000	Active TSS	Ovary	ovary
35	chr7:66204800-66207000	Active TSS	A549	lung
36	chr7:66204800-66207400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:66204800-66207600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:66204800-66207600	Active TSS	HSMMtube	muscle
39	chr7:66204800-66207600	Active TSS	NHLF	lung
40	chr7:66204800-66208000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:66205000-66206400	Active TSS	Primary T cells from cord blood	blood
42	chr7:66205000-66206400	Active TSS	Brain Anterior Caudate	brain
43	chr7:66205000-66206600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:66205000-66206600	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr7:66205000-66206600	Active TSS	Brain Angular Gyrus	brain
46	chr7:66205000-66206600	Active TSS	Fetal Brain Male	brain
47	chr7:66205000-66206600	Active TSS	Fetal Stomach	stomach
48	chr7:66205000-66206600	Active TSS	Stomach Mucosa	stomach
49	chr7:66205000-66206800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr7:66205000-66206800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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Variant report

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