Variant report

Variant	rs12450951
Chromosome Location	chr17:63092681-63092682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11871788	0.92[ASN][1000 genomes]
rs12450227	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12453373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12453609	0.94[ASN][1000 genomes]
rs12936763	0.83[ASN][1000 genomes]
rs12953276	0.82[ASN][1000 genomes]
rs1808918	0.94[ASN][1000 genomes]
rs4791236	0.99[ASN][1000 genomes]
rs62062507	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6504277	0.97[ASN][1000 genomes]
rs7215482	0.99[ASN][1000 genomes]
rs7225502	0.94[ASN][1000 genomes]
rs9892587	0.82[EUR][1000 genomes]
rs9893064	0.83[ASN][1000 genomes]
rs9903197	0.82[EUR][1000 genomes]
rs9907990	0.84[ASN][1000 genomes]
rs9908587	0.88[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	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv575872	chr17:63084995-63111452	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63082200-63096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:63082800-63095400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:63082800-63095400	Weak transcription	Small Intestine	intestine
4	chr17:63089000-63093800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:63089400-63093200	Weak transcription	A549	lung
6	chr17:63089400-63095400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr17:63090800-63095200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:63092000-63092800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:63092200-63095400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr17:63092600-63095200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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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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