Variant report

Variant	rs7127109
Chromosome Location	chr11:34449058-34449059
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	FOXA1	chr11:34448741-34449185	HepG2	liver:	n/a	n/a
2	GTF2F1	chr11:34448856-34449302	Hela-S3	cervix:	n/a	n/a
3	EP300	chr11:34448493-34449188	HepG2	liver:	n/a	n/a
4	SMC3	chr11:34448637-34449112	HepG2	liver:	n/a	n/a
5	MYC	chr11:34448570-34449258	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr11:34448952-34449222	K562	blood:	n/a	n/a
7	ARID3A	chr11:34448484-34449153	HepG2	liver:	n/a	n/a
8	JUND	chr11:34448880-34449319	K562	blood:	n/a	n/a
9	MAFF	chr11:34448637-34449339	HepG2	liver:	n/a	n/a
10	STAT3	chr11:34448865-34449206	MCF10A-Er-Src	breast:	n/a	chr11:34448912-34448924
11	FOS	chr11:34448657-34449278	MCF10A-Er-Src	breast:	n/a	n/a
12	TCF12	chr11:34448029-34449444	SK-N-SH	brain:	n/a	n/a
13	EP300	chr11:34448495-34449379	K562	blood:	n/a	n/a
14	E2F4	chr11:34448947-34449195	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:34448741-34449290	U87	brain:	n/a	n/a
16	RAD21	chr11:34448841-34449145	HepG2	liver:	n/a	n/a
17	RAD21	chr11:34448788-34449326	Hela-S3	cervix:	n/a	n/a
18	MAX	chr11:34448736-34449299	A549	lung:	n/a	n/a
19	POLR2A	chr11:34448913-34449079	Hela-S3	cervix:	n/a	n/a
20	MAX	chr11:34448549-34449373	A549	lung:	n/a	n/a
21	CEBPB	chr11:34448560-34449176	HepG2	liver:	n/a	chr11:34448790-34448801
22	JUND	chr11:34448708-34449289	HepG2	liver:	n/a	n/a
23	TEAD4	chr11:34448450-34449514	K562	blood:	n/a	n/a
24	RFX5	chr11:34448706-34449243	Hela-S3	cervix:	n/a	n/a
25	REST	chr11:34448669-34449184	HepG2	liver:	n/a	n/a
26	MAX	chr11:34448332-34449262	SK-N-SH	brain:	n/a	n/a
27	FOXA1	chr11:34448567-34449133	HepG2	liver:	n/a	n/a
28	USF2	chr11:34448896-34449126	Hela-S3	cervix:	n/a	n/a
29	TBL1XR1	chr11:34449019-34449432	K562	blood:	n/a	n/a
30	FOSL2	chr11:34448665-34449266	A549	lung:	n/a	n/a
31	CEBPB	chr11:34448642-34449133	IMR90	lung:	n/a	chr11:34448790-34448801
32	KAP1	chr11:34448943-34449200	U2OS	brain:	n/a	n/a
33	FOSL2	chr11:34448274-34449355	SK-N-SH	brain:	n/a	n/a
34	GATA1	chr11:34448425-34449530	PBDE	blood:	n/a	chr11:34449316-34449323
35	CEBPB	chr11:34448664-34449437	K562	blood:	n/a	chr11:34448790-34448801
36	FOS	chr11:34448666-34449291	MCF10A-Er-Src	breast:	n/a	n/a
37	CEBPB	chr11:34448605-34449305	A549	lung:	n/a	chr11:34448790-34448801
38	CEBPB	chr11:34448549-34449271	Hela-S3	cervix:	n/a	chr11:34448790-34448801
39	GATA3	chr11:34448009-34449452	SK-N-SH	brain:	n/a	chr11:34449316-34449323
40	POLR2A	chr11:34448843-34449204	U87	brain:	n/a	n/a
41	CEBPB	chr11:34448680-34449165	HepG2	liver:	n/a	chr11:34448790-34448801
42	REST	chr11:34448574-34449333	A549	lung:	n/a	chr11:34449198-34449211 chr11:34449205-34449213
43	EP300	chr11:34448392-34449452	A549	lung:	n/a	n/a
44	BCL3	chr11:34448522-34449311	A549	lung:	n/a	n/a
45	FOXA1	chr11:34448580-34449139	HepG2	liver:	n/a	n/a
46	MAFK	chr11:34448585-34449440	Hela-S3	cervix:	n/a	chr11:34449068-34449077
47	POLR2A	chr11:34448875-34449267	SK-N-SH	brain:	n/a	n/a
48	NFIC	chr11:34448121-34449260	SK-N-SH	brain:	n/a	n/a
49	EP300	chr11:34448481-34449433	A549	lung:	n/a	n/a
50	MAFK	chr11:34448531-34449320	HepG2	liver:	n/a	chr11:34449068-34449077

No.	Distal block	Cell Line	Cell type
1	chr11:34444429..34446350-chr11:34447705..34449536,2	K562	blood:
2	chr11:34443552..34446459-chr11:34446644..34449623,2	MCF-7	breast:
3	chr11:34447883..34451792-chr11:34456049..34462661,10	K562	blood:

Variant related genes	Relation type
CIR1P3	TF binding region
ENSG00000121691	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10768074	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10836212	0.81[ASN][1000 genomes]
rs10836213	0.83[ASN][1000 genomes]
rs10836214	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs10836219	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10836220	0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs10836221	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10836226	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10836227	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10836228	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10836231	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836232	0.95[CHB][hapmap];0.85[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10836233	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10836235	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10836250	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs11032677	0.90[ASN][1000 genomes]
rs11032685	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032686	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032687	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032688	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032689	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11032690	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032691	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032692	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032693	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11032694	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11032697	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11032701	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11032716	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11032717	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11608027	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs12276378	0.88[ASN][1000 genomes]
rs12277763	0.88[ASN][1000 genomes]
rs12285367	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12289239	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12292102	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12708346	0.81[ASN][1000 genomes]
rs12786782	0.88[ASN][1000 genomes]
rs12802066	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12803540	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1408034	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1408036	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1408037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408038	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1408039	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1408040	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17881488	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17884666	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17885743	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980719	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs2073059	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2223676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274044	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2284364	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2420387	0.85[CEU][hapmap];0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs34682777	0.88[ASN][1000 genomes]
rs3758730	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60077297	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61447308	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6484720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs6484721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111687	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7111765	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7111903	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7115206	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7117384	0.91[ASN][1000 genomes]
rs7117540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118388	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs7127314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs7127560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs7131159	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131473	0.91[ASN][1000 genomes]
rs7928156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928368	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs7928635	0.81[ASN][1000 genomes]
rs7929333	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7929460	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7929574	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7929899	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7929931	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7929952	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7930070	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7944397	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7947841	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.97[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	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34443400-34450000	Enhancers	Primary hematopoietic stem cells	blood
2	chr11:34443800-34460000	Weak transcription	Esophagus	oesophagus
3	chr11:34445000-34449400	Enhancers	HMEC	breast
4	chr11:34446600-34455000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:34447000-34449400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:34447200-34449600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:34447400-34449400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr11:34447400-34449400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr11:34447400-34449600	Enhancers	HSMMtube	muscle
10	chr11:34447400-34449600	Enhancers	NHEK	skin
11	chr11:34447400-34449800	Enhancers	NHLF	lung
12	chr11:34447400-34451200	Enhancers	Adipose Nuclei	Adipose
13	chr11:34447600-34449200	Enhancers	NH-A	brain
14	chr11:34447600-34450200	Enhancers	HepG2	liver
15	chr11:34447800-34450000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:34447800-34450000	Enhancers	Liver	Liver
17	chr11:34447800-34450600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:34448000-34449400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:34448200-34449200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:34448200-34449200	Enhancers	Fetal Lung	lung
21	chr11:34448200-34449200	Enhancers	Placenta	Placenta
22	chr11:34448400-34451200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:34448600-34451800	Weak transcription	Primary B cells from cord blood	blood
24	chr11:34448800-34449200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:34448800-34449400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:34448800-34449600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:34448800-34449600	Flanking Active TSS	K562	blood
28	chr11:34449000-34449200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:34449000-34449200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:34449000-34449400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:34449000-34449600	Enhancers	A549	lung
32	chr11:34449000-34449600	Enhancers	Osteobl	bone
33	chr11:34449000-34449800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:34449000-34449800	Enhancers	Hela-S3	cervix
35	chr11:34449000-34450000	Enhancers	HSMM	muscle
36	chr11:34449000-34450000	Enhancers	NHDF-Ad	bronchial
37	chr11:34449000-34455000	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links