Variant report

Variant	rs2056585
Chromosome Location	chr5:111617285-111617286
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1004385	0.83[CHB][hapmap]
rs11743178	0.83[CHB][hapmap]
rs11749725	0.90[ASN][1000 genomes]
rs13184663	0.81[EUR][1000 genomes]
rs1464764	0.85[ASN][1000 genomes]
rs1464766	0.96[CEU][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs1474360	0.81[CHB][hapmap]
rs1524426	0.83[ASN][1000 genomes]
rs17134325	0.83[ASN][1000 genomes]
rs1851888	0.94[CHB][hapmap];0.91[ASN][1000 genomes]
rs60311998	0.89[ASN][1000 genomes]
rs61501911	0.89[ASN][1000 genomes]
rs6594584	0.92[ASN][1000 genomes]
rs6594585	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];0.92[ASN][1000 genomes]
rs7445191	0.93[ASN][1000 genomes]
rs7706772	0.82[CHD][hapmap];0.85[ASN][1000 genomes]
rs821734	0.82[CHB][hapmap]
rs821735	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111586600-111626400	Weak transcription	Gastric	stomach
2	chr5:111590400-111628200	Weak transcription	Aorta	Aorta
3	chr5:111590800-111618200	Weak transcription	Right Atrium	heart
4	chr5:111613200-111619600	Weak transcription	Fetal Brain Male	brain
5	chr5:111613200-111619800	Weak transcription	Fetal Brain Female	brain
6	chr5:111613400-111618600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:111615800-111618000	Weak transcription	Fetal Heart	heart
8	chr5:111616800-111617400	Enhancers	Adipose Nuclei	Adipose
9	chr5:111617000-111617400	Enhancers	Left Ventricle	heart
10	chr5:111617200-111617400	Enhancers	Esophagus	oesophagus
11	chr5:111617200-111617400	Enhancers	Psoas Muscle	Psoas
12	chr5:111617200-111621000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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