Variant report

Variant	rs6991626
Chromosome Location	chr8:130844075-130844076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16904165	1.00[EUR][1000 genomes]
rs16904167	1.00[EUR][1000 genomes]
rs16904172	1.00[EUR][1000 genomes]
rs16904177	1.00[EUR][1000 genomes]
rs60106676	1.00[EUR][1000 genomes]
rs60876734	1.00[EUR][1000 genomes]
rs6991867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008330	1.00[EUR][1000 genomes]
rs73710959	1.00[EUR][1000 genomes]
rs73710960	1.00[EUR][1000 genomes]
rs73710967	1.00[EUR][1000 genomes]
rs73710971	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	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv522535	chr8:130804293-130844400	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130838600-130847600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:130838600-130852200	Weak transcription	Psoas Muscle	Psoas
3	chr8:130838800-130852200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:130839000-130852200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:130839000-130860200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:130839200-130882000	Weak transcription	Right Ventricle	heart
7	chr8:130839400-130852600	Weak transcription	Fetal Intestine Large	intestine
8	chr8:130843200-130845000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:130843200-130845200	Weak transcription	Right Atrium	heart
10	chr8:130844000-130844800	ZNF genes & repeats	iPS-20b 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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