Variant report

Variant	rs10090708
Chromosome Location	chr8:48262387-48262388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10094689	1.00[AFR][1000 genomes]
rs10104642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10110049	0.88[AFR][1000 genomes]
rs10111833	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111963	1.00[AMR][1000 genomes]
rs11993708	0.92[AFR][1000 genomes]
rs28382309	0.92[AFR][1000 genomes]
rs28408352	1.00[AFR][1000 genomes]
rs28439682	1.00[AMR][1000 genomes]
rs28533391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28587193	0.92[AFR][1000 genomes]
rs28812531	0.92[AFR][1000 genomes]
rs28897086	0.92[AFR][1000 genomes]
rs6989067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6992748	1.00[AMR][1000 genomes]
rs6994360	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003614	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7014936	0.88[AFR][1000 genomes]
rs7821542	0.92[AFR][1000 genomes]
rs7831198	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9657080	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers 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 lncRNA	34 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48209400-48266000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:48228600-48265800	Weak transcription	K562	blood
3	chr8:48230400-48267400	Weak transcription	Spleen	Spleen
4	chr8:48238800-48274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:48239000-48265800	Weak transcription	Aorta	Aorta
6	chr8:48247800-48276400	Weak transcription	Colonic Mucosa	Colon
7	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
8	chr8:48249200-48265600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:48249200-48282000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:48249800-48266000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:48249800-48267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:48249800-48277400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:48249800-48277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:48252400-48265000	Weak transcription	HSMMtube	muscle
15	chr8:48253400-48267200	Weak transcription	Lung	lung
16	chr8:48253400-48274400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:48253600-48273800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:48253800-48264800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:48254600-48265000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:48254600-48265000	Weak transcription	A549	lung
21	chr8:48254600-48268400	Weak transcription	Gastric	stomach
22	chr8:48254800-48263400	Weak transcription	Hela-S3	cervix
23	chr8:48254800-48264400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:48254800-48265000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:48255000-48265800	Weak transcription	Ovary	ovary
26	chr8:48256200-48264600	Weak transcription	Pancreas	Pancrea
27	chr8:48256200-48274200	Weak transcription	Esophagus	oesophagus
28	chr8:48256400-48263600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:48256400-48264800	Weak transcription	NHEK	skin
30	chr8:48256400-48272200	Weak transcription	GM12878-XiMat	blood
31	chr8:48256400-48274200	Weak transcription	Primary T cells from cord blood	blood
32	chr8:48256400-48276200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:48256400-48276800	Weak transcription	Dnd41	blood
34	chr8:48256400-48281000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:48256600-48264800	Weak transcription	Primary B cells from cord blood	blood
36	chr8:48256600-48265000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:48256600-48267400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:48256600-48273000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:48256800-48265800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:48256800-48265800	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:48257000-48265800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:48258400-48265000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:48259600-48265000	Weak transcription	Adipose Nuclei	Adipose
44	chr8:48260400-48265800	Weak transcription	HepG2	liver
45	chr8:48261200-48263400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:48261600-48265000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:48261800-48262400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:48261800-48262400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:48261800-48262400	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr8:48261800-48262400	Strong transcription	Fetal Stomach	stomach

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