Variant report

Variant	rs57266874
Chromosome Location	chr8:91056621-91056622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1805825	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1805834	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1805835	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1805861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805884	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2280778	0.89[EUR][1000 genomes]
rs3736640	0.89[EUR][1000 genomes]
rs58089858	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985934	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7005991	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7006318	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7006767	0.81[AFR][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	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
2	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
2	chr8:91018600-91065400	Weak transcription	HMEC	breast
3	chr8:91019000-91057000	Weak transcription	Fetal Brain Female	brain
4	chr8:91027600-91066800	Weak transcription	NHEK	skin
5	chr8:91029400-91066000	Weak transcription	HUVEC	blood vessel
6	chr8:91030000-91057400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:91032000-91057000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:91032000-91064000	Weak transcription	Fetal Brain Male	brain
9	chr8:91032000-91064800	Weak transcription	NHLF	lung
10	chr8:91032200-91057400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:91033800-91064400	Weak transcription	NH-A	brain
12	chr8:91035000-91057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:91035400-91057600	Weak transcription	Gastric	stomach
14	chr8:91040200-91059200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:91040800-91057000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:91041200-91057400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr8:91041400-91058800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr8:91042800-91057000	Weak transcription	Spleen	Spleen
19	chr8:91043000-91057000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:91043000-91057000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:91046800-91059200	Strong transcription	Adipose Nuclei	Adipose
22	chr8:91047000-91057000	Weak transcription	HepG2	liver
23	chr8:91047200-91058800	Strong transcription	Primary B cells from cord blood	blood
24	chr8:91047600-91057000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:91048200-91056800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:91048200-91057400	Weak transcription	Brain Germinal Matrix	brain
27	chr8:91048200-91058600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr8:91048200-91058600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr8:91048200-91058800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr8:91048200-91059000	Strong transcription	Primary T cells from cord blood	blood
31	chr8:91048200-91059000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:91048200-91059000	Strong transcription	Liver	Liver
33	chr8:91048600-91058600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:91048600-91058800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:91048600-91059000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:91049000-91058600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:91049200-91058400	Strong transcription	Placenta	Placenta
38	chr8:91049600-91057400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:91049600-91066800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:91049800-91067200	Weak transcription	Osteobl	bone
41	chr8:91050000-91057400	Weak transcription	Pancreas	Pancrea
42	chr8:91050200-91065000	Weak transcription	Small Intestine	intestine
43	chr8:91050200-91066800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr8:91051000-91057000	Weak transcription	Fetal Intestine Small	intestine
45	chr8:91051000-91057400	Weak transcription	Aorta	Aorta
46	chr8:91051600-91059000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:91051800-91057400	Weak transcription	Fetal Stomach	stomach
48	chr8:91052000-91057400	Weak transcription	Esophagus	oesophagus
49	chr8:91052000-91060200	Weak transcription	K562	blood
50	chr8:91052200-91057000	Weak transcription	Rectal Smooth Muscle	rectum

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