Variant report

Variant	rs62523140
Chromosome Location	chr8:103442613-103442614
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12681819	0.86[EUR][1000 genomes]
rs13266369	0.82[ASN][1000 genomes]
rs13269273	0.90[ASN][1000 genomes]
rs13270182	0.84[ASN][1000 genomes]
rs2290707	0.86[EUR][1000 genomes]
rs28927370	0.86[EUR][1000 genomes]
rs34300781	0.85[ASN][1000 genomes]
rs34620785	0.83[ASN][1000 genomes]
rs4609174	0.83[ASN][1000 genomes]
rs4734621	0.82[ASN][1000 genomes]
rs57117916	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58177193	0.92[ASN][1000 genomes]
rs62523109	0.92[ASN][1000 genomes]
rs62523142	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62523147	0.83[ASN][1000 genomes]
rs72606690	0.81[ASN][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	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103430600-103444400	Weak transcription	GM12878-XiMat	blood
2	chr8:103438600-103449200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:103440400-103447000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:103440600-103447000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:103441800-103442800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:103441800-103443000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:103441800-103443000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:103441800-103443000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:103442000-103442800	Enhancers	K562	blood
10	chr8:103442200-103443000	Enhancers	Hela-S3	cervix
11	chr8:103442600-103443000	Enhancers	HepG2	liver

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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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