Variant report

Variant	rs1638566
Chromosome Location	chr11:67124333-67124334
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr11:67124203-67124590	K562	blood:	n/a	n/a
2	RAD21	chr11:67124299-67124804	Hela-S3	cervix:	n/a	chr11:67124500-67124519 chr11:67124501-67124510
3	SMC3	chr11:67124315-67124761	K562	blood:	n/a	chr11:67124501-67124508 chr11:67124501-67124515
4	ELK4	chr11:67124326-67124584	Hela-S3	cervix:	n/a	n/a
5	CHD1	chr11:67124241-67124655	GM12878	blood:	n/a	n/a
6	CTCF	chr11:67124232-67124814	MCF-7	breast:	n/a	chr11:67124502-67124511 chr11:67124499-67124517 chr11:67124501-67124522 chr11:67124755-67124764
7	ZNF263	chr11:67124298-67124843	HEK293-T-REx	kidney:	n/a	chr11:67124601-67124610
8	RAD21	chr11:67124302-67124741	H1-hESC	embryonic stem cell:	n/a	chr11:67124500-67124519 chr11:67124501-67124510
9	POLR2A	chr11:67124134-67124678	SK-N-SH	brain:	n/a	n/a
10	RAD21	chr11:67124189-67124944	ECC-1	luminal epithelium:	n/a	chr11:67124500-67124519 chr11:67124501-67124510
11	RAD21	chr11:67124204-67124894	A549	lung:	n/a	chr11:67124500-67124519 chr11:67124501-67124510
12	POLR2A	chr11:67124211-67125031	HCT-116	colon:	n/a	n/a
13	ELF1	chr11:67124194-67124619	K562	blood:	n/a	n/a
14	YY1	chr11:67124277-67124571	K562	blood:	n/a	n/a
15	SMARCC1	chr11:67123934-67125741	Hela-S3	cervix:	n/a	chr11:67124890-67124899
16	NFIC	chr11:67124276-67124764	GM12878	blood:	n/a	n/a
17	RAD21	chr11:67124310-67124760	A549	lung:	n/a	chr11:67124500-67124519 chr11:67124501-67124510
18	CHD1	chr11:67123825-67126117	IMR90	lung:	n/a	n/a
19	CTCF	chr11:67124236-67124761	HepG2	liver:	n/a	chr11:67124502-67124511 chr11:67124499-67124517 chr11:67124501-67124522
20	RAD21	chr11:67124252-67124784	HepG2	liver:	n/a	chr11:67124500-67124519 chr11:67124501-67124510
21	POLR2A	chr11:67124234-67124983	HCT-116	colon:	n/a	n/a
22	CTCF	chr11:67124027-67125017	HCT-116	colon:	n/a	chr11:67124502-67124511 chr11:67124499-67124517 chr11:67124501-67124522 chr11:67124755-67124764
23	RCOR1	chr11:67124331-67124679	HepG2	liver:	n/a	n/a
24	CTCF	chr11:67124320-67124697	T-47D	breast:	n/a	chr11:67124502-67124511 chr11:67124499-67124517 chr11:67124501-67124522
25	SMC3	chr11:67123874-67125066	SK-N-SH	brain:	n/a	chr11:67124501-67124508 chr11:67124751-67124765 chr11:67124501-67124515
26	MAZ	chr11:67124316-67124745	K562	blood:	n/a	n/a
27	ELF1	chr11:67124327-67124629	HepG2	liver:	n/a	n/a
28	TBP	chr11:67124250-67124555	HepG2	liver:	n/a	n/a
29	YY1	chr11:67124184-67124689	GM12878	blood:	n/a	n/a
30	REST	chr11:67124082-67124919	A549	lung:	n/a	chr11:67124164-67124177
31	STAT5A	chr11:67124117-67124702	GM12878	blood:	n/a	chr11:67124455-67124463 chr11:67124449-67124469 chr11:67124454-67124463 chr11:67124455-67124464
32	MTA3	chr11:67124148-67124671	GM12878	blood:	n/a	n/a
33	RAD21	chr11:67124319-67124723	HepG2	liver:	n/a	chr11:67124500-67124519 chr11:67124501-67124510
34	NFIC	chr11:67124304-67124683	HepG2	liver:	n/a	n/a
35	CTCF	chr11:67124262-67124693	ECC-1	luminal epithelium:	n/a	chr11:67124502-67124511 chr11:67124499-67124517 chr11:67124501-67124522
36	MYBL2	chr11:67124123-67124748	HepG2	liver:	n/a	n/a
37	STAT1	chr11:67124295-67124702	K562	blood:	n/a	chr11:67124453-67124464 chr11:67124455-67124463 chr11:67124449-67124469 chr11:67124454-67124463 chr11:67124455-67124464
38	RUNX3	chr11:67124246-67124738	GM12878	blood:	n/a	n/a
39	JUND	chr11:67124075-67125948	SK-N-SH	brain:	n/a	chr11:67124889-67124899 chr11:67124506-67124517 chr11:67124890-67124898 chr11:67125484-67125495 chr11:67125484-67125496 chr11:67124889-67124899 chr11:67125485-67125495 chr11:67124889-67124899 chr11:67124780-67124791 chr11:67125486-67125493 chr11:67125486-67125495 chr11:67124889-67124899 chr11:67125485-67125495
40	RAD21	chr11:67123451-67125212	HCT-116	colon:	n/a	chr11:67124500-67124519 chr11:67124030-67124042 chr11:67124501-67124510
41	ZNF143	chr11:67124315-67124704	GM12878	blood:	n/a	n/a
42	CHD2	chr11:67124314-67124680	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:67124321-67124641	HepG2	liver:	n/a	chr11:67124502-67124511 chr11:67124499-67124517 chr11:67124501-67124522
44	POLR2A	chr11:67124235-67125700	U87	brain:	n/a	n/a
45	BCLAF1	chr11:67124297-67124719	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:67124229-67124578	GM12878	blood:	n/a	n/a
47	TCF3	chr11:67124317-67124691	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:67124123-67125700	U87	brain:	n/a	n/a
49	JUND	chr11:67124194-67125089	A549	lung:	n/a	chr11:67124889-67124899 chr11:67124780-67124791 chr11:67124889-67124899 chr11:67124889-67124899 chr11:67124890-67124898 chr11:67124506-67124517 chr11:67124889-67124899
50	RAD21	chr11:67124230-67124810	H1-hESC	embryonic stem cell:	n/a	chr11:67124500-67124519 chr11:67124501-67124510

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67124319-67124369	HCM	heart:	n/a
2	chr11:67124319-67124369	HPAEpiC	pulmonary alveolar:	n/a
3	chr11:67124319-67124369	ECC-1	luminal epithelium:	n/a
4	chr11:67124319-67124369	SKMC	muscle:	n/a
5	chr11:67124319-67124369	MCF10A-Er-Src	breast:	n/a
6	chr11:67124319-67124369	U87	brain:	n/a
7	chr11:67124319-67124369	ProgFib	skin:	n/a
8	chr11:67124319-67124369	HMEC	breast:	n/a
9	chr11:67124319-67124369	BJ	skin:	n/a
10	chr11:67124319-67124369	GM12878	blood:	n/a
11	chr11:67124319-67124369	HEEpiC	esophagus:	n/a
12	chr11:67124319-67124369	HEK293	kidney:	embryo
13	chr11:67124319-67124369	AG04450	lung:	fetal
14	chr11:67124319-67124369	HRCEpiC	kidney:	n/a
15	chr11:67124319-67124369	HepG2	liver:	n/a
16	chr11:67124319-67124369	Hela-S3	cervix:	n/a
17	chr11:67124319-67124369	ovcar-3	ovarian:	n/a
18	chr11:67124319-67124369	RPTEC	kidney:	n/a
19	chr11:67124319-67124369	SAEC	small airway:	n/a
20	chr11:67124319-67124369	HAEpiC	amniotic membrane:	n/a
21	chr11:67124319-67124369	HRE	kidney:	n/a
22	chr11:67124319-67124369	K562	blood:	n/a
23	chr11:67124319-67124369	GM12891	blood:	n/a
24	chr11:67124319-67124369	MCF-7	breast:	n/a
25	chr11:67124319-67124369	NHDF-neo	bronchial:	n/a
26	chr11:67124319-67124369	AoSMC	blood vessel:	n/a
27	chr11:67124319-67124369	PANC-1	pancreas:	n/a
28	chr11:67124319-67124369	GM06990	blood:	n/a
29	chr11:67124319-67124369	NB4	blood:	n/a
30	chr11:67124319-67124369	BE2_C	brain:	n/a
31	chr11:67124319-67124369	HRPEpiC	eye:	n/a
32	chr11:67124319-67124369	NHBE	bronchial:	n/a
33	chr11:67124319-67124369	PrEC	prostate:	n/a
34	chr11:67124319-67124369	HCPEpiC	choroid plexus:	n/a
35	chr11:67124319-67124369	A549	lung:	n/a
36	chr11:67124319-67124369	AG09319	gingival:	n/a
37	chr11:67124319-67124369	SK-N-SH	brain:	n/a
38	chr11:67124319-67124369	NT2-D1	testis:	n/a
39	chr11:67124319-67124369	HNPCEpiC	eye:	n/a
40	chr11:67124319-67124369	AG09309	skin:	n/a
41	chr11:67124319-67124369	HL-60	blood:	n/a
42	chr11:67124319-67124369	IMR90	lung:	fetal
43	chr11:67124319-67124369	GM12892	blood:	n/a
44	chr11:67124319-67124369	HCT-116	colon:	n/a
45	chr11:67124319-67124369	T-47D	breast:	n/a
46	chr11:67124319-67124369	LNCaP	prostate:	n/a
47	chr11:67124319-67124369	Caco-2	colon:	n/a
48	chr11:67124319-67124369	HIPEpiC	eye:	n/a
49	chr11:67124319-67124369	SK-N-SH_RA	brain:	n/a
50	chr11:67124319-67124369	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67032700..67034613-chr11:67124238..67125805,2	K562	blood:
2	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
3	chr11:67124080..67124985-chr11:67141333..67142050,4	K562	blood:
4	chr11:67124281..67124913-chr11:67273353..67273960,2	K562	blood:
5	chr11:67124136..67124774-chr11:67141523..67142327,3	MCF-7	breast:
6	chr11:67119765..67126816-chr11:67129168..67134805,10	K562	blood:
7	chr11:67069948..67073118-chr11:67121673..67124639,3	MCF-7	breast:
8	chr11:67123845..67125865-chr11:67186294..67189193,2	K562	blood:
9	chr11:67121864..67124508-chr11:67250272..67251792,2	K562	blood:
10	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
11	chr11:67040558..67045868-chr11:67119770..67124610,5	K562	blood:
12	chr11:67124312..67125028-chr11:67273279..67274094,2	MCF-7	breast:
13	chr11:67075683..67087551-chr11:67114391..67125856,27	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAD9A-4	chr11:67121054-67126866	NONHSAT022409

Variant related genes	Relation type
POLD4	TF binding region
POLD4	CpG island
ENSG00000256514	Chromatin interaction
ENSG00000201684	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000173020	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10896167	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896168	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10896169	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11227756	0.92[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs11227788	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11601700	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11608094	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12276833	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12288107	0.92[ASW][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.82[ASN][1000 genomes]
rs12290164	0.92[ASW][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs12788752	1.00[ASW][hapmap];0.88[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1540135	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1558256	0.92[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1626067	0.81[LWK][hapmap];0.86[YRI][hapmap]
rs1638567	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1638571	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1638574	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1638586	0.92[ASW][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs1790733	0.92[ASW][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1790740	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790747	0.91[ASW][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.86[YRI][hapmap]
rs2066496	0.88[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs2071007	0.92[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2256154	0.95[CHD][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs2286620	0.88[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap]
rs2429460	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2429462	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2514256	0.92[ASW][hapmap];0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2514258	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34596169	0.83[ASN][1000 genomes]
rs3758943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3781941	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781942	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781943	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3909168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3927807	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.88[LWK][hapmap];0.81[MKK][hapmap]
rs4024520	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4255546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4542419	0.92[ASW][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs4930192	1.00[CEU][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs4930197	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930418	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56337023	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs660960	0.92[CHB][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap]
rs674499	0.92[ASW][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs7106352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7480390	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs872109	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs872110	0.92[ASW][hapmap];0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1638566	RPS6KB2	cis	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67121000-67126000	Enhancers	Spleen	Spleen
2	chr11:67121200-67125000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:67121200-67125000	Enhancers	Lung	lung
4	chr11:67121200-67125000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr11:67121400-67125400	Flanking Active TSS	Hela-S3	cervix
6	chr11:67121600-67124400	Flanking Active TSS	HepG2	liver
7	chr11:67121600-67125000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr11:67121600-67125000	Enhancers	Gastric	stomach
9	chr11:67121600-67125200	Flanking Active TSS	A549	lung
10	chr11:67121600-67125800	Enhancers	Fetal Muscle Trunk	muscle
11	chr11:67121600-67126200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:67121600-67126400	Enhancers	Placenta	Placenta
13	chr11:67121600-67132600	Weak transcription	Fetal Brain Female	brain
14	chr11:67121800-67124400	Enhancers	Esophagus	oesophagus
15	chr11:67121800-67124600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:67121800-67124600	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:67121800-67125000	Enhancers	Left Ventricle	heart
18	chr11:67121800-67125000	Enhancers	Ovary	ovary
19	chr11:67121800-67125000	Enhancers	Pancreas	Pancrea
20	chr11:67121800-67125400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:67121800-67125600	Enhancers	Adipose Nuclei	Adipose
22	chr11:67121800-67125800	Enhancers	Fetal Intestine Large	intestine
23	chr11:67121800-67126000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:67121800-67126000	Enhancers	Right Atrium	heart
25	chr11:67121800-67126000	Enhancers	NHEK	skin
26	chr11:67121800-67126200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:67121800-67126200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:67121800-67126200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:67121800-67126200	Enhancers	Primary B cells from peripheral blood	blood
30	chr11:67121800-67126200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:67121800-67126200	Enhancers	Fetal Muscle Leg	muscle
32	chr11:67121800-67126200	Enhancers	Fetal Stomach	stomach
33	chr11:67121800-67126200	Enhancers	HMEC	breast
34	chr11:67121800-67126600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:67121800-67132800	Weak transcription	Fetal Brain Male	brain
36	chr11:67122000-67124400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr11:67122000-67124800	Weak transcription	Brain Germinal Matrix	brain
38	chr11:67122000-67124800	Enhancers	NH-A	brain
39	chr11:67122000-67125200	Enhancers	Right Ventricle	heart
40	chr11:67122000-67125400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:67122000-67125400	Enhancers	Colon Smooth Muscle	Colon
42	chr11:67122000-67126000	Enhancers	NHDF-Ad	bronchial
43	chr11:67122200-67124600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:67122200-67125000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:67122200-67125200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:67122200-67125600	Enhancers	Brain Hippocampus Middle	brain
47	chr11:67122200-67126000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:67122200-67126200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:67122400-67124400	Flanking Active TSS	Colonic Mucosa	Colon
50	chr11:67122400-67124600	Weak transcription	Fetal Heart	heart

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