Variant report

Variant	rs73710008
Chromosome Location	chr8:121747875-121747876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10283394	0.83[EUR][1000 genomes]
rs12545570	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547868	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12679633	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4478618	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57592694	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58358774	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58755659	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73323165	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73706703	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73706728	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73706735	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73706739	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9297626	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121731000-121757400	Weak transcription	Lung	lung
2	chr8:121739600-121750200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:121739600-121758000	Weak transcription	NHLF	lung
4	chr8:121742200-121753200	Weak transcription	Fetal Kidney	kidney
5	chr8:121742200-121754600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:121742200-121757200	Weak transcription	HSMM	muscle
7	chr8:121742400-121749800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:121742600-121748800	Weak transcription	Psoas Muscle	Psoas
9	chr8:121742800-121748600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:121742800-121750600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:121743800-121750600	Weak transcription	Fetal Intestine Large	intestine
12	chr8:121744600-121748600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:121745200-121748600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:121745200-121749400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:121745200-121761200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:121745400-121748600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:121745400-121750200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr8:121745400-121761400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr8:121745400-121761600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:121745600-121748400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:121745600-121761400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:121745800-121748000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr8:121745800-121750200	Enhancers	Primary T cells from cord blood	blood
24	chr8:121745800-121751600	Weak transcription	HSMMtube	muscle
25	chr8:121745800-121761400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:121745800-121774200	Weak transcription	Fetal Stomach	stomach
27	chr8:121746600-121748000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:121746600-121748000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr8:121746600-121748200	Enhancers	Liver	Liver
30	chr8:121746600-121748400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:121746800-121748000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:121746800-121748000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:121746800-121748200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:121746800-121749200	Genic enhancers	HepG2	liver
35	chr8:121747000-121748200	Enhancers	Thymus	Thymus
36	chr8:121747400-121748000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:121747400-121748000	Enhancers	Pancreas	Pancrea
38	chr8:121747400-121748200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr8:121747400-121748200	Enhancers	Osteobl	bone
40	chr8:121747600-121749200	Enhancers	Small Intestine	intestine
41	chr8:121747600-121755800	Weak transcription	Aorta	Aorta
42	chr8:121747800-121748000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:121747800-121748200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:121747800-121748400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:121747800-121749000	Enhancers	Gastric	stomach
46	chr8:121747800-121749200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
47	chr8:121747800-121757400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:121747800-121759600	Weak transcription	Fetal Thymus	thymus

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