Variant report

Variant	rs6992255
Chromosome Location	chr8:48568367-48568368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10092880	0.86[EUR][1000 genomes]
rs10095193	0.86[EUR][1000 genomes]
rs10107723	0.83[EUR][1000 genomes]
rs10958274	0.82[EUR][1000 genomes]
rs1487438	0.86[EUR][1000 genomes]
rs28542855	0.86[EUR][1000 genomes]
rs58297550	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7002441	0.81[ASN][1000 genomes]
rs72646358	0.85[EUR][1000 genomes]
rs72646361	0.90[EUR][1000 genomes]
rs72646363	0.83[EUR][1000 genomes]
rs72646372	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72646383	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs729228	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812323	0.86[EUR][1000 genomes]
rs7822320	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7843066	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
3	chr8:48551800-48571400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:48552800-48571600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:48554800-48571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:48554800-48571600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:48555400-48572200	Weak transcription	Fetal Intestine Small	intestine
8	chr8:48555400-48573800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:48557600-48571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:48558000-48570400	Weak transcription	Left Ventricle	heart
11	chr8:48558000-48571000	Weak transcription	Right Atrium	heart
12	chr8:48558200-48570400	Weak transcription	Pancreas	Pancrea
13	chr8:48560600-48571200	Weak transcription	Placenta	Placenta
14	chr8:48565000-48570400	Weak transcription	Gastric	stomach
15	chr8:48565000-48571200	Weak transcription	Right Ventricle	heart
16	chr8:48565000-48571200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:48565600-48574400	Weak transcription	Aorta	Aorta
18	chr8:48565800-48568600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:48565800-48571800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:48566000-48568800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:48566000-48569000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:48566000-48569000	Weak transcription	HSMM	muscle
23	chr8:48566000-48569000	Weak transcription	Osteobl	bone
24	chr8:48566000-48569800	Weak transcription	NHLF	lung
25	chr8:48566000-48571400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:48566000-48571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:48566000-48571600	Weak transcription	NH-A	brain
28	chr8:48566200-48568800	Weak transcription	NHDF-Ad	bronchial
29	chr8:48566200-48569000	Weak transcription	Hela-S3	cervix
30	chr8:48566200-48571600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:48566200-48571600	Weak transcription	HMEC	breast
32	chr8:48566400-48571000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:48566600-48569000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:48566600-48571600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:48566600-48571600	Weak transcription	NHEK	skin
36	chr8:48566800-48569000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:48566800-48569000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:48566800-48569000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:48566800-48570400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:48566800-48571000	Weak transcription	K562	blood
41	chr8:48566800-48571200	Weak transcription	Psoas Muscle	Psoas
42	chr8:48566800-48571600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:48566800-48571600	Weak transcription	Esophagus	oesophagus
44	chr8:48567000-48568800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:48567200-48571600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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