Variant report

Variant	rs6988946
Chromosome Location	chr8:130449042-130449043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6984327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7816607	0.96[AFR][1000 genomes];1.00[AMR][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	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130446400-130449400	ZNF genes & repeats	Dnd41	blood
2	chr8:130447400-130449400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:130447800-130449200	Strong transcription	K562	blood
4	chr8:130448600-130458800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:130448800-130449400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:130448800-130451000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:130449000-130449400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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