Variant report

Variant	rs62521245
Chromosome Location	chr8:118620389-118620390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10505315	0.83[ASN][1000 genomes]
rs1396347	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17668076	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17668088	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17746363	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17746428	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3937768	0.81[ASN][1000 genomes]
rs62521228	0.81[ASN][1000 genomes]
rs62521229	0.81[ASN][1000 genomes]
rs62521231	0.83[ASN][1000 genomes]
rs62521240	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62521243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs737298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs749492	0.83[ASN][1000 genomes]
rs755982	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1028387	chr8:118602105-118640162	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118615400-118620800	Weak transcription	Hela-S3	cervix
2	chr8:118615600-118620400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:118615600-118620800	Weak transcription	HMEC	breast
4	chr8:118615800-118620800	Weak transcription	NH-A	brain
5	chr8:118615800-118621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:118616000-118620800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:118616000-118620800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:118616000-118621400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:118616000-118627400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:118616000-118630400	Weak transcription	Aorta	Aorta
11	chr8:118616200-118620600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:118616200-118620800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:118616200-118620800	Weak transcription	HSMM	muscle
14	chr8:118616200-118620800	Weak transcription	NHLF	lung
15	chr8:118616600-118620800	Weak transcription	Osteobl	bone
16	chr8:118618200-118620800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:118618200-118620800	Weak transcription	NHDF-Ad	bronchial
18	chr8:118619400-118621000	Weak transcription	HSMMtube	muscle
19	chr8:118620200-118620600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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

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