Variant report

Variant	rs57076109
Chromosome Location	chr1:222193328-222193329
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59116823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61692699	0.90[AFR][1000 genomes]
rs74147352	1.00[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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr1:222190800-222194200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:222192200-222194000	Weak transcription	HSMM	muscle
3	chr1:222192600-222193800	Weak transcription	Liver	Liver
4	chr1:222192600-222194600	Weak transcription	HSMMtube	muscle
5	chr1:222193000-222193600	Enhancers	Pancreas	Pancrea
6	chr1:222193200-222193400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:222193200-222193600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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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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