Variant report

Variant	rs11762591
Chromosome Location	chr7:121185603-121185604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121170290..121173101-chr7:121184218..121187943,3	K562	blood:
2	chr7:121040420..121043103-chr7:121184130..121186484,2	MCF-7	breast:
3	chr7:121034207..121038636-chr7:121184740..121188442,10	MCF-7	breast:
4	chr7:121169242..121171748-chr7:121184406..121186346,2	MCF-7	breast:
5	chr7:121034427..121039443-chr7:121180318..121188172,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213310	Chromatin interaction
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11761042	1.00[ASN][1000 genomes]
rs11766533	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770273	1.00[ASN][1000 genomes]
rs11770736	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530956	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531641	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531667	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919087	1.00[ASN][1000 genomes]
rs2030988	1.00[ASN][1000 genomes]
rs2030989	1.00[ASN][1000 genomes]
rs2141363	0.87[CEU][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs2402579	1.00[ASN][1000 genomes]
rs34984834	1.00[ASN][1000 genomes]
rs4623347	1.00[ASN][1000 genomes]
rs55788005	1.00[ASN][1000 genomes]
rs56267923	1.00[ASN][1000 genomes]
rs56374602	1.00[ASN][1000 genomes]
rs57592381	1.00[ASN][1000 genomes]
rs57725838	1.00[ASN][1000 genomes]
rs58071425	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58163893	1.00[ASN][1000 genomes]
rs58419209	1.00[ASN][1000 genomes]
rs58659398	1.00[ASN][1000 genomes]
rs59088449	1.00[ASN][1000 genomes]
rs59469952	1.00[ASN][1000 genomes]
rs73717367	1.00[ASN][1000 genomes]
rs73717375	1.00[ASN][1000 genomes]
rs73717379	1.00[ASN][1000 genomes]
rs73717380	1.00[ASN][1000 genomes]
rs73717381	1.00[ASN][1000 genomes]
rs73717382	1.00[ASN][1000 genomes]
rs73717383	1.00[ASN][1000 genomes]
rs73717384	1.00[ASN][1000 genomes]
rs73717385	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv608333	chr7:121132213-121379616	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1015438	chr7:121161554-121221761	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1811558	chr7:121161987-121186293	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv442067	chr7:121161987-121186293	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv2761362	chr7:121172202-121252112	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11762591	WASL	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121183400-121188200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:121183600-121186200	Enhancers	Hela-S3	cervix
3	chr7:121183600-121187600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:121183600-121187600	Enhancers	HUVEC	blood vessel
5	chr7:121183800-121186600	Enhancers	HMEC	breast
6	chr7:121183800-121187600	Enhancers	NHDF-Ad	bronchial
7	chr7:121183800-121187600	Enhancers	Osteobl	bone
8	chr7:121184000-121185800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:121184000-121187600	Enhancers	NHEK	skin
10	chr7:121184400-121187000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:121184600-121186600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:121184800-121186000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:121184800-121186000	Weak transcription	NH-A	brain
14	chr7:121185000-121185800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:121185200-121186800	Weak transcription	HSMM	muscle
16	chr7:121185400-121186200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:121185400-121186800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:121185600-121185800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:121185600-121186200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:121185600-121187600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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