Variant report

Variant	rs1275475
Chromosome Location	chr12:75919693-75919694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:75919171..75922679-chr12:76098756..76100488,3	MCF-7	breast:
2	chr12:75918349..75922851-chr12:76423877..76426904,6	MCF-7	breast:
3	chr12:75918799..75923199-chr12:76423182..76427634,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139289	Chromatin interaction
ENSG00000257453	Chromatin interaction
ENSG00000257839	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1056903	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1056905	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10732759	1.00[ASN][1000 genomes]
rs10735988	1.00[ASN][1000 genomes]
rs10748278	0.87[GIH][hapmap];0.87[TSI][hapmap]
rs10748281	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10785192	1.00[ASN][1000 genomes]
rs10879942	0.82[EUR][1000 genomes]
rs11180599	0.83[EUR][1000 genomes]
rs11180602	0.82[EUR][1000 genomes]
rs1147996	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275473	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275482	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1295819	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383102	0.82[EUR][1000 genomes]
rs1679383	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115542	1.00[ASN][1000 genomes]
rs1842320	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2013270	1.00[ASW][hapmap];0.87[GIH][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4296072	0.87[GIH][hapmap];1.00[ASN][1000 genomes]
rs4462386	1.00[ASN][1000 genomes]
rs4486667	1.00[ASN][1000 genomes]
rs4539373	1.00[ASN][1000 genomes]
rs4882617	0.87[GIH][hapmap];1.00[ASN][1000 genomes]
rs4882633	0.87[GIH][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs4882688	1.00[CHD][hapmap];0.87[GIH][hapmap]
rs7136963	0.81[EUR][1000 genomes]
rs7297095	1.00[JPT][hapmap]
rs7298332	0.82[EUR][1000 genomes]
rs7301086	0.81[EUR][1000 genomes]
rs7316871	0.93[EUR][1000 genomes]
rs7488353	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75919400-75920800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:75919400-75921000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:75919400-75922800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:75919600-75920200	Weak transcription	NHDF-Ad	bronchial

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