Variant report

Variant	rs62530025
Chromosome Location	chr8:125386007-125386008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10102946	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10107757	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10111526	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10217100	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10956176	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11786409	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12682324	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13250065	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13264575	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4351403	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4457313	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4592013	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6980763	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6986235	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7004196	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7004771	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9656954	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3437541	chr8:125382796-125386144	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3398602	chr8:125383071-125386069	Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62530025	LOC286052	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125385600-125386200	Enhancers	Fetal Intestine Large	intestine
2	chr8:125385600-125388000	Weak transcription	Spleen	Spleen
3	chr8:125385800-125386200	Enhancers	Fetal Intestine Small	intestine
4	chr8:125385800-125386200	Enhancers	Fetal Kidney	kidney
5	chr8:125385800-125386200	Enhancers	A549	lung
6	chr8:125385800-125386200	Bivalent Enhancer	HepG2	liver
7	chr8:125385800-125386200	Enhancers	HMEC	breast
8	chr8:125385800-125387000	Weak transcription	Pancreas	Pancrea
9	chr8:125385800-125387000	Weak transcription	Right Ventricle	heart
10	chr8:125385800-125387600	Weak transcription	HSMMtube	muscle
11	chr8:125385800-125388000	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:125386000-125386200	Active TSS	Duodenum Mucosa	Duodenum
13	chr8:125386000-125386200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr8:125386000-125387400	Weak transcription	HSMM	muscle
15	chr8:125386000-125388000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:125386000-125388000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:125386000-125388000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:125386000-125388400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:125386000-125389200	Enhancers	Fetal Heart	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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