Variant report

Variant	rs13392394
Chromosome Location	chr2:31311398-31311399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10178131	0.87[EUR][1000 genomes]
rs10193546	0.89[EUR][1000 genomes]
rs13386542	0.87[EUR][1000 genomes]
rs13404171	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13407335	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17010651	0.81[EUR][1000 genomes]
rs2194466	0.81[EUR][1000 genomes]
rs6705710	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6714508	0.87[EUR][1000 genomes]
rs6718847	0.87[EUR][1000 genomes]
rs6736355	0.81[EUR][1000 genomes]
rs73921454	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9973423	0.87[EUR][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:31302000-31321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:31302600-31325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:31305400-31311400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:31305400-31314000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:31307400-31331600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:31310600-31320800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:31310600-31346800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:31310800-31311800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr2:31311000-31313200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:31311200-31311400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:31311200-31311600	Genic enhancers	NHEK	skin
13	chr2:31311200-31312200	Enhancers	HMEC	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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