Variant report

Variant	rs16904020
Chromosome Location	chr8:130286992-130286993
allele	A/C
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:17)

rs_ID	r²[population]
rs16904021	1.00[AFR][1000 genomes]
rs16904024	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs56683575	0.95[AFR][1000 genomes]
rs57828019	0.95[AFR][1000 genomes]
rs73383531	0.89[AFR][1000 genomes]
rs73383539	0.89[AFR][1000 genomes]
rs73383548	1.00[AFR][1000 genomes]
rs73383550	1.00[AFR][1000 genomes]
rs73383577	1.00[AFR][1000 genomes]
rs73383583	0.95[AFR][1000 genomes]
rs73383590	0.95[AFR][1000 genomes]
rs73383592	0.95[AFR][1000 genomes]
rs73383596	0.95[AFR][1000 genomes]
rs73385507	0.80[AFR][1000 genomes]
rs73385508	0.95[AFR][1000 genomes]
rs73385522	0.95[AFR][1000 genomes]
rs73385524	0.95[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831460	chr8:130185680-130366217	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr8:130278800-130290600	Weak transcription	K562	blood
2	chr8:130280200-130288800	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:130282200-130287000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:130283200-130287200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:130285600-130287000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:130286200-130287800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:130286600-130287000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:130286600-130287000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:130286600-130287200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:130286800-130287400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:130286800-130287400	Enhancers	HUES64 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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