Variant report

Variant	rs714607
Chromosome Location	chr8:120571149-120571150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12114728	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13252721	0.90[ASN][1000 genomes]
rs2028849	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28782203	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4268151	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4272411	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4871352	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6982484	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7002854	0.95[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7008680	0.95[EUR][1000 genomes];0.87[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr8:120562800-120575000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:120565000-120595200	Weak transcription	Fetal Stomach	stomach
3	chr8:120565800-120576000	Weak transcription	Left Ventricle	heart
4	chr8:120566000-120577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:120566000-120577800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:120566000-120596800	Weak transcription	Spleen	Spleen
7	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
8	chr8:120566200-120577000	Weak transcription	NHLF	lung
9	chr8:120566200-120577200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:120566200-120578400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:120566400-120571200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:120566400-120579000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:120567000-120577800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:120567000-120580200	Strong transcription	Placenta	Placenta
15	chr8:120567600-120572800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:120567800-120571800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:120568000-120577800	Strong transcription	Liver	Liver
18	chr8:120568000-120595400	Weak transcription	Fetal Thymus	thymus
19	chr8:120568200-120571200	Weak transcription	Brain Substantia Nigra	brain
20	chr8:120568200-120598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:120568400-120582200	Weak transcription	Ovary	ovary
22	chr8:120568600-120594000	Weak transcription	Primary T cells from cord blood	blood
23	chr8:120568800-120574200	Strong transcription	Brain Anterior Caudate	brain
24	chr8:120568800-120576600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:120569000-120576000	Strong transcription	Fetal Lung	lung
26	chr8:120569200-120575800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr8:120569400-120573400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
29	chr8:120569800-120571400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:120569800-120571800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:120569800-120572200	Genic enhancers	Adipose Nuclei	Adipose
32	chr8:120569800-120572200	Genic enhancers	NHDF-Ad	bronchial
33	chr8:120569800-120578600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:120570200-120574000	Weak transcription	Fetal Kidney	kidney
35	chr8:120570200-120575000	Weak transcription	Lung	lung
36	chr8:120570400-120571400	Strong transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:120570600-120574200	Strong transcription	Brain Hippocampus Middle	brain
38	chr8:120570600-120578000	Weak transcription	Thymus	Thymus
39	chr8:120570800-120571600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr8:120570800-120573400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:120570800-120580600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:120571000-120575600	Strong transcription	Osteobl	bone
43	chr8:120571000-120576200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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