Variant report

Variant	rs6992297
Chromosome Location	chr8:59668781-59668782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10093116	1.00[EUR][1000 genomes]
rs16923635	1.00[EUR][1000 genomes]
rs16923636	1.00[EUR][1000 genomes]
rs28669287	1.00[EUR][1000 genomes]
rs6471741	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73250352	1.00[EUR][1000 genomes]
rs73684348	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr8:59661200-59669200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:59661400-59674600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:59666400-59671600	Weak transcription	HMEC	breast
4	chr8:59666600-59672000	Weak transcription	K562	blood
5	chr8:59666800-59670800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:59666800-59671000	Weak transcription	NHDF-Ad	bronchial
7	chr8:59666800-59671600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:59667000-59671400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:59667000-59671600	Weak transcription	A549	lung
10	chr8:59667000-59671600	Weak transcription	Osteobl	bone
11	chr8:59667200-59669000	Weak transcription	HSMM	muscle

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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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