Variant report

Variant	rs7562459
Chromosome Location	chr2:205570023-205570024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10177328	0.96[ASN][1000 genomes]
rs10208062	0.97[ASN][1000 genomes]
rs10432519	0.96[ASN][1000 genomes]
rs10490269	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10490270	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10932083	0.96[ASN][1000 genomes]
rs11897822	0.95[ASN][1000 genomes]
rs13431268	0.95[ASN][1000 genomes]
rs16836450	0.87[ASN][1000 genomes]
rs17595154	0.93[ASN][1000 genomes]
rs17595168	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17595196	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17595210	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17595217	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17595238	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17595379	0.96[ASN][1000 genomes]
rs17637976	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17637988	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17638005	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17638018	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17638036	0.95[ASN][1000 genomes]
rs2216320	0.88[ASN][1000 genomes]
rs41425446	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs41440444	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs41511746	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57526221	0.92[ASN][1000 genomes]
rs57991840	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58727861	0.86[ASN][1000 genomes]
rs58748975	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58798694	0.87[ASN][1000 genomes]
rs58870976	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61014400	0.96[ASN][1000 genomes]
rs6751997	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73984286	0.88[ASN][1000 genomes]
rs7565896	0.86[ASN][1000 genomes]
rs7584529	0.96[ASN][1000 genomes]
rs7595278	0.95[ASN][1000 genomes]
rs7603478	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv10213	chr2:205569372-205571270	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv3429037	chr2:205569635-205570228	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205557200-205595600	Weak transcription	Aorta	Aorta
2	chr2:205561000-205570200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:205568200-205570400	Weak transcription	Psoas Muscle	Psoas
4	chr2:205569400-205570800	Enhancers	Colon Smooth Muscle	Colon
5	chr2:205569600-205570200	Enhancers	Fetal Lung	lung
6	chr2:205569600-205570200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr2:205569600-205570600	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:205569600-205570800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:205569800-205570400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:205569800-205570600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:205569800-205570600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:205569800-205570800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:205569800-205570800	Enhancers	HSMM	muscle
14	chr2:205569800-205570800	Enhancers	HSMMtube	muscle
15	chr2:205569800-205571600	Weak transcription	Fetal Kidney	kidney
16	chr2:205569800-205580800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:205570000-205570200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:205570000-205570600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:205570000-205570600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:205570000-205581800	Weak transcription	Ovary	ovary

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