Variant report

Variant	rs7127431
Chromosome Location	chr11:67040693-67040694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67040389-67040972	GM12878	blood:	n/a	n/a
2	MTA3	chr11:67040492-67041073	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:67034324-67041514	HL-60	blood:	n/a	n/a
4	POLR2A	chr11:67033578-67041547	HL-60	blood:	n/a	n/a
5	POLR2A	chr11:67033515-67041155	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:67040330-67040709	K562	blood:	n/a	n/a
7	RUNX3	chr11:67040502-67040827	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:67040649-67040786	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67039582..67041813-chr11:67071533..67074126,2	K562	blood:
2	chr11:67040152..67042460-chr11:67157852..67160394,2	MCF-7	breast:
3	chr11:67040558..67045868-chr11:67119770..67124610,5	K562	blood:
4	chr11:67038891..67042263-chr11:67140367..67142559,4	MCF-7	breast:

No data

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172613	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10896161	0.84[EUR][1000 genomes]
rs10896165	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227671	0.87[AMR][1000 genomes]
rs11227689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes]
rs11227690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11227695	0.87[AMR][1000 genomes]
rs11227696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs11227703	0.87[AMR][1000 genomes]
rs11227713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs11227715	0.87[AMR][1000 genomes]
rs11227718	1.00[AMR][1000 genomes]
rs11227720	1.00[AMR][1000 genomes]
rs11227722	1.00[AMR][1000 genomes]
rs11227723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes]
rs11227732	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11227740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227742	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227744	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227746	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227751	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227755	1.00[JPT][hapmap]
rs11227761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227765	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227768	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227786	0.81[ASN][1000 genomes]
rs11227787	0.81[ASN][1000 genomes]
rs12223898	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12274774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282264	0.84[EUR][1000 genomes]
rs17145414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes]
rs3730145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892143	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55936319	0.87[AMR][1000 genomes]
rs56132056	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58100805	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59589410	0.87[AMR][1000 genomes]
rs61395951	0.87[AMR][1000 genomes]
rs61758503	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61758508	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889551	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889552	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891307	0.87[AMR][1000 genomes]
rs61891316	0.87[AMR][1000 genomes]
rs61891317	0.87[AMR][1000 genomes]
rs61891340	1.00[AMR][1000 genomes]
rs61891342	0.87[AMR][1000 genomes]
rs61891343	1.00[AMR][1000 genomes]
rs61891344	0.87[AMR][1000 genomes]
rs61891346	0.87[AMR][1000 genomes]
rs61891586	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891588	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891589	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61891590	0.86[ASN][1000 genomes]
rs61891592	0.83[ASN][1000 genomes]
rs6591234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs72926981	0.87[AMR][1000 genomes]
rs7927142	0.87[AMR][1000 genomes]
rs7946985	0.87[AMR][1000 genomes]
rs9630209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[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	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7127431	RPS6KB2	cis	lymphoblastoid	seeQTL
rs7127431	SSH3	cis	multi-tissue	Pritchard
rs7127431	C10orf32	trans	brain	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67034400-67041400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr11:67034600-67040800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr11:67034600-67041400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
4	chr11:67034800-67041000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:67035000-67040800	Weak transcription	Ovary	ovary
6	chr11:67035400-67040800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:67035400-67044400	Weak transcription	A549	lung
8	chr11:67035600-67041200	Genic enhancers	Gastric	stomach
9	chr11:67035600-67041400	Enhancers	Fetal Heart	heart
10	chr11:67035600-67041600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr11:67035600-67046400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr11:67035800-67044600	Enhancers	Left Ventricle	heart
13	chr11:67036000-67041000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:67036800-67041000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:67037000-67041400	Enhancers	Osteobl	bone
16	chr11:67037200-67041800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:67037200-67055800	Genic enhancers	Spleen	Spleen
18	chr11:67037600-67040800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:67037600-67042600	Enhancers	NHDF-Ad	bronchial
20	chr11:67037800-67041000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr11:67037800-67044600	Enhancers	Liver	Liver
22	chr11:67037800-67046200	Enhancers	Stomach Mucosa	stomach
23	chr11:67037800-67046800	Weak transcription	Aorta	Aorta
24	chr11:67038000-67041000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:67038200-67040800	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
26	chr11:67038200-67041600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:67038200-67042800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:67038200-67055200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:67038400-67040800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:67038400-67040800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:67038400-67041400	Enhancers	Brain Substantia Nigra	brain
32	chr11:67038400-67044200	Genic enhancers	Fetal Muscle Leg	muscle
33	chr11:67038400-67044800	Genic enhancers	Fetal Stomach	stomach
34	chr11:67038400-67045800	Genic enhancers	Fetal Intestine Small	intestine
35	chr11:67038400-67047000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:67038600-67040800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:67038600-67040800	Weak transcription	HUVEC	blood vessel
38	chr11:67038600-67041000	Enhancers	Brain Cingulate Gyrus	brain
39	chr11:67038600-67041000	Genic enhancers	Colonic Mucosa	Colon
40	chr11:67038600-67041400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:67038600-67041400	Genic enhancers	NHEK	skin
42	chr11:67038600-67042200	Weak transcription	K562	blood
43	chr11:67038600-67044200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:67038600-67044600	Enhancers	Right Atrium	heart
45	chr11:67038800-67041000	Genic enhancers	Rectal Mucosa Donor 31	rectum
46	chr11:67038800-67041400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:67038800-67041400	Genic enhancers	Fetal Brain Female	brain
48	chr11:67038800-67041600	Enhancers	Brain Hippocampus Middle	brain
49	chr11:67038800-67044200	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr11:67038800-67044600	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links