Variant report

Variant	rs8178271
Chromosome Location	chr8:48686099-48686100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs16927308	1.00[AMR][1000 genomes]
rs16927336	1.00[AMR][1000 genomes]
rs17287584	1.00[AMR][1000 genomes]
rs45531731	1.00[AMR][1000 genomes]
rs56807775	1.00[AMR][1000 genomes]
rs58572522	1.00[AMR][1000 genomes]
rs58592579	1.00[AMR][1000 genomes]
rs58965290	1.00[AMR][1000 genomes]
rs59337594	1.00[AMR][1000 genomes]
rs59402950	1.00[AMR][1000 genomes]
rs59422998	1.00[AMR][1000 genomes]
rs60256648	1.00[AMR][1000 genomes]
rs61376238	1.00[AMR][1000 genomes]
rs73565275	1.00[AMR][1000 genomes]
rs73565280	1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	1.00[AMR][1000 genomes]
rs73565299	1.00[AMR][1000 genomes]
rs73567507	1.00[AMR][1000 genomes]
rs73567511	1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	1.00[AMR][1000 genomes]
rs73567581	1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	1.00[AMR][1000 genomes]
rs73567589	1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	1.00[AMR][1000 genomes]
rs73567594	1.00[AMR][1000 genomes]
rs73567596	1.00[AMR][1000 genomes]
rs73567597	1.00[AMR][1000 genomes]
rs73569205	1.00[AMR][1000 genomes]
rs73569208	1.00[AMR][1000 genomes]
rs73569212	1.00[AMR][1000 genomes]
rs73569216	1.00[AMR][1000 genomes]
rs73569220	1.00[AMR][1000 genomes]
rs73569223	1.00[AMR][1000 genomes]
rs73569224	1.00[AMR][1000 genomes]
rs73569227	1.00[AMR][1000 genomes]
rs73571448	1.00[AMR][1000 genomes]
rs73571453	1.00[AMR][1000 genomes]
rs73571454	1.00[AMR][1000 genomes]
rs73571459	1.00[AMR][1000 genomes]
rs73571460	1.00[AMR][1000 genomes]
rs73571462	1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	1.00[AMR][1000 genomes]
rs73571469	1.00[AMR][1000 genomes]
rs73577390	1.00[AMR][1000 genomes]
rs7463108	1.00[AMR][1000 genomes]
rs751786	1.00[AMR][1000 genomes]
rs7818094	1.00[AMR][1000 genomes]
rs8178070	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1016915	chr8:48653136-48710849	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv539597	chr8:48653136-48710849	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48674800-48686200	Weak transcription	Brain Substantia Nigra	brain
2	chr8:48674800-48686400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:48675000-48686600	Weak transcription	HSMMtube	muscle
4	chr8:48675200-48686600	Weak transcription	Brain Angular Gyrus	brain
5	chr8:48675800-48686800	Weak transcription	NHEK	skin
6	chr8:48676000-48686400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:48676200-48686200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:48676200-48686200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:48676400-48686600	Weak transcription	Thymus	Thymus
10	chr8:48676400-48687000	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:48676600-48686400	Weak transcription	Right Ventricle	heart
12	chr8:48676600-48686600	Weak transcription	NHDF-Ad	bronchial
13	chr8:48676600-48689000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:48676800-48686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:48676800-48686400	Weak transcription	Fetal Kidney	kidney
16	chr8:48677000-48689000	Weak transcription	Pancreas	Pancrea
17	chr8:48677000-48689200	Weak transcription	Gastric	stomach
18	chr8:48677400-48690200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:48677600-48686600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:48677600-48686600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:48677600-48686600	Weak transcription	Spleen	Spleen
22	chr8:48677600-48688400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:48677600-48689800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:48677800-48686200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:48678000-48689000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:48678200-48686200	Weak transcription	Lung	lung
27	chr8:48678200-48686400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:48678200-48693800	Weak transcription	Stomach Mucosa	stomach
29	chr8:48678400-48700000	Weak transcription	Small Intestine	intestine
30	chr8:48679200-48686200	Weak transcription	HepG2	liver
31	chr8:48679400-48690800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:48679600-48686400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:48679800-48709600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:48680200-48686600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:48682200-48686400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:48682200-48686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:48682800-48686200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:48683200-48686200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr8:48683200-48686200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:48683600-48686200	Weak transcription	Colonic Mucosa	Colon
41	chr8:48683800-48686600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:48683800-48686600	Weak transcription	Left Ventricle	heart
43	chr8:48684000-48686200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:48684000-48686600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:48684000-48690200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr8:48684000-48721000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:48684000-48722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:48684200-48686800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:48684200-48695600	Strong transcription	HSMM	muscle
50	chr8:48684200-48701600	Strong transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links