Variant report

Variant	rs9316366
Chromosome Location	chr13:48789089-48789090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12100070	0.92[EUR][1000 genomes]
rs13378199	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13378726	1.00[EUR][1000 genomes]
rs4448832	1.00[EUR][1000 genomes]
rs9595854	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9595857	1.00[EUR][1000 genomes]
rs9595869	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595872	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3327569	chr13:48743550-48798094	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1043294	chr13:48762477-48810028	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv1031	chr13:48766510-48790172	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48784200-48792600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:48784800-48791400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr13:48785000-48790000	Weak transcription	Osteobl	bone
4	chr13:48788400-48789200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:48788400-48789200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr13:48788600-48789200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr13:48788600-48791600	Enhancers	Fetal Intestine Small	intestine
8	chr13:48788800-48789200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr13:48788800-48789200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:48788800-48789200	Enhancers	Esophagus	oesophagus
11	chr13:48788800-48789400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:48788800-48790000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr13:48789000-48789200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:48789000-48789200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr13:48789000-48796600	Weak transcription	Ovary	ovary

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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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