Variant report

Variant	rs7595278
Chromosome Location	chr2:205552591-205552592
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10177328	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10208062	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10432519	0.96[ASN][1000 genomes]
rs10490269	0.96[ASN][1000 genomes]
rs10490270	0.96[ASN][1000 genomes]
rs10932083	0.96[ASN][1000 genomes]
rs11897822	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13431268	1.00[ASN][1000 genomes]
rs16836450	0.89[ASN][1000 genomes]
rs17595154	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17595168	0.96[ASN][1000 genomes]
rs17595196	1.00[ASN][1000 genomes]
rs17595210	1.00[ASN][1000 genomes]
rs17595217	1.00[ASN][1000 genomes]
rs17595238	1.00[ASN][1000 genomes]
rs17595379	0.96[ASN][1000 genomes]
rs17637976	1.00[ASN][1000 genomes]
rs17637988	1.00[ASN][1000 genomes]
rs17638005	1.00[ASN][1000 genomes]
rs17638018	1.00[ASN][1000 genomes]
rs17638036	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2216320	0.88[ASN][1000 genomes]
rs41425446	0.96[ASN][1000 genomes]
rs41440444	0.96[ASN][1000 genomes]
rs41511746	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57526221	0.92[ASN][1000 genomes]
rs57991840	0.96[ASN][1000 genomes]
rs58727861	0.88[ASN][1000 genomes]
rs58748975	0.97[ASN][1000 genomes]
rs58798694	0.89[ASN][1000 genomes]
rs58870976	1.00[ASN][1000 genomes]
rs61014400	0.96[ASN][1000 genomes]
rs6719589	0.85[EUR][1000 genomes]
rs6751997	0.96[ASN][1000 genomes]
rs73984286	0.88[ASN][1000 genomes]
rs7562459	0.95[ASN][1000 genomes]
rs7565896	0.88[ASN][1000 genomes]
rs7584529	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7603478	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv584243	chr2:205539092-205630618	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205545600-205560800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:205547000-205555000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:205547000-205556400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:205547400-205560000	Weak transcription	HSMMtube	muscle
5	chr2:205547600-205555000	Weak transcription	HSMM	muscle
6	chr2:205547600-205555400	Weak transcription	Fetal Lung	lung
7	chr2:205547600-205560000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:205547600-205560400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:205547800-205556000	Weak transcription	HUVEC	blood vessel
10	chr2:205548600-205556600	Weak transcription	Liver	Liver
11	chr2:205549000-205559400	Weak transcription	Fetal Intestine Small	intestine
12	chr2:205549800-205555400	Weak transcription	Fetal Intestine Large	intestine
13	chr2:205550800-205552800	Enhancers	NHDF-Ad	bronchial
14	chr2:205550800-205553000	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:205551000-205552600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:205551000-205553200	Enhancers	Colon Smooth Muscle	Colon
17	chr2:205551200-205552800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:205551600-205552800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:205551800-205557200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:205552000-205556600	Weak transcription	Fetal Kidney	kidney

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