Variant report

Variant	rs12530956
Chromosome Location	chr7:121183736-121183737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121034084..121038523-chr7:121179149..121184689,7	MCF-7	breast:
2	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: 0)

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

rs_ID	r²[population]
rs11761042	1.00[ASN][1000 genomes]
rs11762591	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]
rs11766533	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770273	1.00[ASN][1000 genomes]
rs11770736	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];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531667	0.91[AMR][1000 genomes];0.96[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	0.82[CEU][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];0.95[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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121177800-121184200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:121182000-121183800	Weak transcription	HMEC	breast
3	chr7:121182000-121183800	Weak transcription	NHDF-Ad	bronchial
4	chr7:121182400-121183800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:121182400-121184000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:121183400-121188200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:121183600-121186200	Enhancers	Hela-S3	cervix
8	chr7:121183600-121187600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:121183600-121187600	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links