Variant report

Variant	rs4295658
Chromosome Location	chr8:62661593-62661594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10095911	1.00[CEU][hapmap]
rs10107157	1.00[CEU][hapmap]
rs12156078	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12156424	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16927847	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927866	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16927875	1.00[CEU][hapmap]
rs16927904	1.00[CEU][hapmap]
rs16927910	1.00[CEU][hapmap]
rs2015490	1.00[CEU][hapmap]
rs2350583	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3195249	1.00[CEU][hapmap]
rs4130092	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58825446	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61159324	0.86[AFR][1000 genomes]
rs73682360	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73682362	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62658000-62662600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:62658000-62662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:62658200-62662600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:62658600-62666800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:62659200-62663600	Enhancers	Primary B cells from cord blood	blood
6	chr8:62660400-62662800	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:62660800-62661600	Enhancers	Stomach Mucosa	stomach
8	chr8:62661000-62661600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr8:62661000-62661600	Enhancers	Fetal Lung	lung
10	chr8:62661000-62661600	Flanking Active TSS	A549	lung
11	chr8:62661200-62662600	Weak transcription	K562	blood
12	chr8:62661400-62661800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr8:62661400-62662600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:62661400-62664200	Enhancers	HepG2	liver
15	chr8:62661400-62666800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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

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