Variant report

Variant	rs343695
Chromosome Location	chr6:80620392-80620393
allele	C/T
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:18)

rs_ID	r²[population]
rs163983	1.00[EUR][1000 genomes]
rs239530	1.00[EUR][1000 genomes]
rs343617	1.00[EUR][1000 genomes]
rs343619	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343622	1.00[EUR][1000 genomes]
rs343626	1.00[EUR][1000 genomes]
rs343630	1.00[EUR][1000 genomes]
rs343633	1.00[EUR][1000 genomes]
rs343634	1.00[EUR][1000 genomes]
rs343690	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343702	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343704	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs346365	1.00[EUR][1000 genomes]
rs57791020	1.00[ASN][1000 genomes]
rs60369726	1.00[ASN][1000 genomes]
rs61092458	1.00[ASN][1000 genomes]
rs62411141	1.00[ASN][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3475140	chr6:80592690-80679283	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3475142	chr6:80592789-80679132	Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80617600-80625600	Weak transcription	Fetal Thymus	thymus
2	chr6:80618400-80622600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:80618400-80656000	Weak transcription	Aorta	Aorta
4	chr6:80618600-80626200	Weak transcription	Thymus	Thymus
5	chr6:80618800-80620400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr6:80619200-80631800	Weak transcription	Esophagus	oesophagus
7	chr6:80619600-80620800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:80619600-80620800	Enhancers	Psoas Muscle	Psoas
9	chr6:80619800-80621000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr6:80620000-80620400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr6:80620000-80620600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:80620000-80620800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:80620200-80620400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:80620200-80622600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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