Variant report

Variant	rs73709146
Chromosome Location	chr8:119632766-119632767
allele	A/C
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:11)

rs_ID	r²[population]
rs28416228	1.00[AMR][1000 genomes]
rs55829046	1.00[AMR][1000 genomes]
rs57120226	1.00[AMR][1000 genomes]
rs60528605	1.00[AMR][1000 genomes]
rs73709145	1.00[AMR][1000 genomes]
rs73709147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709148	1.00[AMR][1000 genomes]
rs73709151	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709152	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709156	1.00[AMR][1000 genomes]
rs73709159	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	nsv891413	chr8:119607281-119679668	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1814789	chr8:119627671-119672134	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:119609200-119633000	Weak transcription	Gastric	stomach
2	chr8:119609400-119633600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:119623800-119632800	Weak transcription	Fetal Lung	lung
4	chr8:119624200-119632800	Weak transcription	Pancreas	Pancrea
5	chr8:119627200-119633200	Weak transcription	Aorta	Aorta
6	chr8:119627600-119632800	Weak transcription	NHEK	skin
7	chr8:119627600-119633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:119627800-119632800	Weak transcription	Colonic Mucosa	Colon
9	chr8:119627800-119632800	Weak transcription	Spleen	Spleen
10	chr8:119628000-119632800	Weak transcription	Esophagus	oesophagus
11	chr8:119628000-119633000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:119631400-119632800	Weak transcription	Brain Angular Gyrus	brain
13	chr8:119631600-119633200	Weak transcription	Lung	lung
14	chr8:119631800-119632800	Enhancers	Duodenum Mucosa	Duodenum
15	chr8:119631800-119632800	Enhancers	Fetal Intestine Small	intestine
16	chr8:119631800-119633200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:119632000-119632800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:119632000-119632800	Enhancers	Fetal Intestine Large	intestine
19	chr8:119632000-119632800	Active TSS	GM12878-XiMat	blood
20	chr8:119632000-119633000	Weak transcription	Right Ventricle	heart
21	chr8:119632200-119632800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:119632200-119632800	Enhancers	Brain Cingulate Gyrus	brain
23	chr8:119632200-119632800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr8:119632200-119633000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:119632400-119632800	Enhancers	Brain Hippocampus Middle	brain
26	chr8:119632400-119632800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr8:119632400-119632800	Enhancers	Fetal Kidney	kidney
28	chr8:119632400-119633000	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:119632400-119633000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:119632400-119633000	Enhancers	Right Atrium	heart
31	chr8:119632400-119633200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr8:119632400-119633400	Enhancers	Left Ventricle	heart
33	chr8:119632600-119632800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:119632600-119632800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:119632600-119632800	Active TSS	Brain Anterior Caudate	brain
36	chr8:119632600-119633000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr8:119632600-119633000	Enhancers	Primary hematopoietic stem cells	blood
38	chr8:119632600-119633000	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr8:119632600-119633000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr8:119632600-119633000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr8:119632600-119633200	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr8:119632600-119633200	Weak transcription	Stomach Mucosa	stomach
43	chr8:119632600-119633400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr8:119632600-119634000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr8:119632600-119635200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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