Variant report

Variant	rs16848957
Chromosome Location	chr2:213484224-213484225
allele	C/T
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:16)

rs_ID	r²[population]
rs10497980	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16848937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848991	0.87[ASN][1000 genomes]
rs16849010	0.87[ASN][1000 genomes]
rs1878566	0.88[CHB][hapmap]
rs2220025	0.87[ASN][1000 genomes]
rs2371617	0.84[AMR][1000 genomes]
rs2371618	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4672649	0.92[ASN][1000 genomes]
rs4673670	0.92[ASN][1000 genomes]
rs6717685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71426311	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9288454	0.92[ASN][1000 genomes]
rs938785	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9750629	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs990208	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv875813	chr2:213480637-213509809	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213482400-213485600	Enhancers	HMEC	breast
2	chr2:213483000-213485600	Enhancers	NHEK	skin
3	chr2:213483200-213485400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:213483200-213485400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:213483200-213485600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:213483600-213485000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:213483800-213485200	Enhancers	Muscle Satellite Cultured Cells	--

Quick Search:

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

what's new

Quick links