Variant report

Variant	rs17070931
Chromosome Location	chr13:48433111-48433112
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2209380	0.83[ASN][1000 genomes]
rs2897435	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2897437	0.83[ASN][1000 genomes]
rs4245345	0.83[ASN][1000 genomes]
rs753372	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7982499	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7990189	0.83[ASN][1000 genomes]
rs7995548	0.83[ASN][1000 genomes]
rs9562769	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9567925	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9567926	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9567929	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr13:48431600-48433400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:48432000-48433800	Enhancers	HepG2	liver
3	chr13:48432200-48433400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:48432200-48433800	Enhancers	NHDF-Ad	bronchial
5	chr13:48432400-48433400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:48432400-48433800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:48432600-48433200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:48432600-48433200	Enhancers	HMEC	breast
9	chr13:48432600-48433200	Enhancers	Osteobl	bone
10	chr13:48432600-48433400	Enhancers	HSMM	muscle
11	chr13:48433000-48433400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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