Variant report

Variant	rs11948413
Chromosome Location	chr5:112716128-112716129
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11740233	1.00[JPT][hapmap]
rs11746791	1.00[JPT][hapmap]
rs11948187	0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948446	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948538	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11948830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11949387	1.00[EUR][1000 genomes]
rs11949669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11950791	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11952116	0.85[AMR][1000 genomes]
rs11953559	1.00[EUR][1000 genomes]
rs11953906	0.84[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11954798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11955591	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956430	0.85[AMR][1000 genomes]
rs11956800	1.00[EUR][1000 genomes]
rs11959532	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11959955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12188230	1.00[JPT][hapmap]
rs2914152	0.80[YRI][hapmap]
rs34086862	1.00[AMR][1000 genomes]
rs34161832	1.00[EUR][1000 genomes]
rs57113080	0.83[AMR][1000 genomes]
rs58548907	1.00[EUR][1000 genomes]
rs59149164	1.00[EUR][1000 genomes]
rs59757131	1.00[EUR][1000 genomes]
rs61341835	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6878004	0.83[AMR][1000 genomes]
rs7729214	0.91[YRI][hapmap]
rs7731164	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112700800-112718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:112707800-112719000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:112708000-112716200	Weak transcription	Fetal Kidney	kidney
4	chr5:112711400-112716200	Weak transcription	NH-A	brain
5	chr5:112711800-112716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:112714000-112717000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:112714200-112717000	Enhancers	Fetal Stomach	stomach
8	chr5:112714400-112716200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr5:112714400-112717200	Enhancers	Fetal Heart	heart
10	chr5:112714600-112716400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:112714600-112717000	Enhancers	Fetal Lung	lung
12	chr5:112714800-112718600	Enhancers	Dnd41	blood
13	chr5:112715000-112716200	Enhancers	Rectal Smooth Muscle	rectum
14	chr5:112715000-112716400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:112715000-112720600	Weak transcription	Aorta	Aorta
16	chr5:112715200-112716200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:112715200-112716200	Weak transcription	HMEC	breast
18	chr5:112715200-112716800	Weak transcription	NHEK	skin
19	chr5:112715200-112718200	Weak transcription	HUVEC	blood vessel
20	chr5:112715400-112716200	Weak transcription	Osteobl	bone
21	chr5:112715800-112718000	Enhancers	HSMMtube	muscle
22	chr5:112716000-112716400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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