Variant report

Variant	rs72951845
Chromosome Location	chr1:86896510-86896511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11799749	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801454	0.90[AFR][1000 genomes]
rs11803763	0.80[AFR][1000 genomes]
rs11804733	0.80[AFR][1000 genomes]
rs11810074	0.90[AFR][1000 genomes]
rs56841249	0.90[AFR][1000 genomes]
rs5744312	1.00[AMR][1000 genomes]
rs5744319	1.00[AMR][1000 genomes]
rs5744332	1.00[AMR][1000 genomes]
rs58279400	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949857	0.80[AFR][1000 genomes]
rs72949858	0.80[AFR][1000 genomes]
rs72949874	0.90[AFR][1000 genomes]
rs72949875	0.90[AFR][1000 genomes]
rs72949879	0.85[AFR][1000 genomes]
rs72949884	0.90[AFR][1000 genomes]
rs72949902	0.90[AFR][1000 genomes]
rs72951825	0.90[AFR][1000 genomes]
rs72951830	0.81[AFR][1000 genomes]
rs72951832	0.90[AFR][1000 genomes]
rs72951849	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951852	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951856	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951859	1.00[AMR][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	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86890600-86903000	Weak transcription	Esophagus	oesophagus
2	chr1:86894200-86897400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:86894400-86896600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:86894400-86896600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr1:86894400-86896600	Enhancers	Dnd41	blood
6	chr1:86894400-86897000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:86894400-86900200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:86894600-86896600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:86894600-86896600	Enhancers	Osteobl	bone
10	chr1:86894800-86896600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:86894800-86897200	Enhancers	NHDF-Ad	bronchial
12	chr1:86895000-86896600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:86895000-86896600	Enhancers	HUVEC	blood vessel
14	chr1:86895000-86898800	Weak transcription	Spleen	Spleen
15	chr1:86895200-86896600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:86895200-86896600	Enhancers	NH-A	brain
17	chr1:86895600-86896600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:86895600-86896600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:86896000-86896600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:86896000-86896600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:86896200-86896600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:86896200-86896800	Enhancers	Hela-S3	cervix
23	chr1:86896200-86897000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:86896200-86897200	Genic enhancers	HMEC	breast
25	chr1:86896400-86896600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:86896400-86896600	Flanking Active TSS	Fetal Lung	lung
27	chr1:86896400-86896600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr1:86896400-86896600	Transcr. at gene 5' and 3'	NHEK	skin
29	chr1:86896400-86901800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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