Variant report

Variant	rs3134387
Chromosome Location	chr8:118715244-118715245
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2136107	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3105775	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134388	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134389	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3134390	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3134391	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3134393	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv891410	chr8:118684994-118730344	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1018830	chr8:118705140-118720649	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118689200-118718600	Weak transcription	Osteobl	bone
2	chr8:118694600-118723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:118702200-118724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:118708600-118725200	Weak transcription	Ovary	ovary
5	chr8:118709600-118715400	Weak transcription	NHDF-Ad	bronchial
6	chr8:118710400-118737200	Weak transcription	Aorta	Aorta
7	chr8:118714400-118715400	Enhancers	HSMM	muscle
8	chr8:118714400-118715600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:118714400-118715600	Enhancers	Fetal Lung	lung
10	chr8:118714400-118715600	Enhancers	Fetal Stomach	stomach
11	chr8:118714400-118715800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:118714400-118716000	Enhancers	Fetal Muscle Leg	muscle
13	chr8:118714600-118715800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:118714600-118717400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:118714800-118718800	Weak transcription	HSMMtube	muscle
16	chr8:118714800-118725800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:118715000-118716000	Enhancers	HUVEC	blood vessel

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

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