Variant report

Variant	rs218952
Chromosome Location	chr8:90721288-90721289
allele	G/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:23)

rs_ID	r²[population]
rs10956226	0.89[EUR][1000 genomes]
rs13278061	0.81[EUR][1000 genomes]
rs1603288	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs160445	0.85[EUR][1000 genomes]
rs2132348	0.89[EUR][1000 genomes]
rs216990	0.85[EUR][1000 genomes]
rs218886	0.81[EUR][1000 genomes]
rs218888	0.81[EUR][1000 genomes]
rs218889	0.81[EUR][1000 genomes]
rs218892	0.89[EUR][1000 genomes]
rs218896	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs218898	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs218904	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs218920	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs218943	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs218945	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs218949	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218950	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs218951	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs419004	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4961159	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6999425	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7828553	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1026523	chr8:90558935-90722580	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1017263	chr8:90605445-90722580	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv3340425	chr8:90686312-90722629	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
10	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90710000-90730000	Weak transcription	HSMMtube	muscle
2	chr8:90710200-90729600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:90710200-90730400	Weak transcription	A549	lung
4	chr8:90710200-90731200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:90710200-90736200	Weak transcription	Adipose Nuclei	Adipose
6	chr8:90711200-90733800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart
8	chr8:90713400-90738000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
10	chr8:90714200-90728000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
12	chr8:90714400-90721800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:90714400-90741000	Weak transcription	Gastric	stomach
14	chr8:90714600-90726600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:90714800-90733000	Weak transcription	Placenta	Placenta
16	chr8:90715400-90741200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:90716800-90738000	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:90717200-90729600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:90717200-90733400	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:90717200-90741000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:90717400-90738000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:90717600-90733400	Weak transcription	Aorta	Aorta
23	chr8:90717600-90733800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:90717800-90731200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:90717800-90736200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:90717800-90737800	Weak transcription	NHEK	skin
27	chr8:90717800-90738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:90717800-90738000	Weak transcription	NH-A	brain
29	chr8:90717800-90747800	Weak transcription	Ovary	ovary
30	chr8:90718200-90731000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:90719400-90730800	Weak transcription	HSMM	muscle
32	chr8:90719600-90721400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:90720200-90721400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:90720400-90721400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:90720400-90721400	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr8:90720400-90721800	ZNF genes & repeats	Fetal Stomach	stomach
37	chr8:90720800-90729800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:90720800-90729800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:90720800-90736000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
41	chr8:90721000-90740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:90721200-90721400	Strong transcription	Fetal Intestine Large	intestine
43	chr8:90721200-90736400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links