Variant report

Variant	rs72611917
Chromosome Location	chr2:114088192-114088193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114087006..114091652-chr2:114092667..114098276,5	MCF-7	breast:
2	chr2:114081925..114084093-chr2:114086383..114088538,3	MCF-7	breast:
3	chr2:114081798..114083531-chr2:114086995..114089661,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2001351	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2004323	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2863958	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4088308	0.92[EUR][1000 genomes]
rs55637730	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55769337	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55809708	0.86[AMR][1000 genomes]
rs55895659	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56082174	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56088998	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56111627	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56215109	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57258055	0.84[AMR][1000 genomes]
rs59766856	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60409272	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60522356	0.85[EUR][1000 genomes]
rs60600282	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62158165	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6710412	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72611918	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72611919	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72611921	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72611922	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114083400-114090200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:114083400-114090800	Weak transcription	Fetal Intestine Small	intestine
3	chr2:114083400-114108000	Weak transcription	Lung	lung
4	chr2:114084600-114088800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:114084600-114089000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:114084600-114089000	Enhancers	HMEC	breast
7	chr2:114085600-114088400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:114085600-114088400	Enhancers	HSMM	muscle
9	chr2:114085600-114088600	Enhancers	HSMMtube	muscle
10	chr2:114085800-114088400	Enhancers	Osteobl	bone
11	chr2:114086000-114088200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:114086200-114088400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:114086600-114088400	Enhancers	NH-A	brain
14	chr2:114086600-114089800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:114086800-114088600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:114086800-114088800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:114087000-114088600	Enhancers	NHDF-Ad	bronchial
18	chr2:114087200-114088400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:114087200-114092000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:114087600-114090000	Weak transcription	Esophagus	oesophagus
21	chr2:114087600-114093600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:114087800-114088200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:114088000-114088400	Transcr. at gene 5' and 3'	A549	lung
24	chr2:114088000-114088400	Flanking Active TSS	NHEK	skin

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