Variant report

Variant	rs72970240
Chromosome Location	chr3:134148089-134148090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134110212..134112141-chr3:134146148..134148218,2	MCF-7	breast:
2	chr3:134146261..134149924-chr3:134150087..134151982,3	MCF-7	breast:
3	chr3:134147507..134149518-chr3:134176090..134178859,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2400271	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6439479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7637832	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1007607	chr3:134131521-134156814	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134142000-134148800	Weak transcription	Spleen	Spleen
2	chr3:134144800-134148200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr3:134145000-134148200	Enhancers	NHLF	lung
4	chr3:134145000-134148400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:134145000-134148400	Enhancers	Osteobl	bone
6	chr3:134145200-134148200	Enhancers	HSMM	muscle
7	chr3:134145200-134148600	Enhancers	Hela-S3	cervix
8	chr3:134145200-134149200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:134145400-134148400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:134145400-134148400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:134145400-134148600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:134145400-134149600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:134146200-134148600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:134146400-134149200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:134146400-134150400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:134146600-134148600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:134147000-134148400	Weak transcription	Esophagus	oesophagus
18	chr3:134147000-134148400	Enhancers	A549	lung
19	chr3:134147800-134148200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:134147800-134149200	Weak transcription	NH-A	brain
21	chr3:134147800-134149800	Weak transcription	Placenta	Placenta
22	chr3:134148000-134149800	Weak transcription	NHDF-Ad	bronchial
23	chr3:134148000-134156000	Weak transcription	NHEK	skin

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