Variant report

Variant	rs72611919
Chromosome Location	chr2:114092068-114092069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs2001351	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2004323	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2863958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4088308	0.95[EUR][1000 genomes]
rs55637730	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55769337	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55809708	0.86[AMR][1000 genomes]
rs55895659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56082174	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56088998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56111627	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56215109	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57258055	0.84[AMR][1000 genomes]
rs59766856	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60409272	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60522356	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60600282	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62158165	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6710412	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72611917	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72611918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72611921	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72611922	0.99[EUR][1000 genomes];0.85[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114083400-114108000	Weak transcription	Lung	lung
2	chr2:114087600-114093600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:114088200-114093400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:114088400-114093200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:114088400-114093200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:114088400-114097600	Weak transcription	HSMM	muscle
7	chr2:114088400-114097800	Weak transcription	NH-A	brain
8	chr2:114088600-114093400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:114088600-114093400	Weak transcription	NHDF-Ad	bronchial
10	chr2:114088600-114097800	Weak transcription	HSMMtube	muscle
11	chr2:114089000-114097000	Weak transcription	HMEC	breast
12	chr2:114089400-114093600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:114090200-114095400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:114090400-114094400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:114090600-114092200	Genic enhancers	A549	lung
16	chr2:114091000-114092800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:114091000-114098600	Weak transcription	Fetal Intestine Small	intestine
18	chr2:114091200-114092200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:114091200-114092200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:114091400-114093600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:114091400-114095000	Weak transcription	Right Atrium	heart
22	chr2:114091800-114093400	Weak transcription	NHEK	skin
23	chr2:114092000-114093600	Weak transcription	Fetal Stomach	stomach

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