Variant report

Variant	rs73317229
Chromosome Location	chr8:121543269-121543270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs60062153	0.84[AFR][1000 genomes]
rs73315116	0.84[AFR][1000 genomes]
rs73315127	0.84[AFR][1000 genomes]
rs73315145	0.84[AFR][1000 genomes]
rs73315178	0.84[AFR][1000 genomes]
rs73315186	0.84[AFR][1000 genomes]
rs73315188	0.84[AFR][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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121474600-121553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:121498200-121552400	Weak transcription	Pancreas	Pancrea
3	chr8:121499400-121550600	Weak transcription	Fetal Kidney	kidney
4	chr8:121499800-121550600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:121500000-121550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:121502200-121546600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:121502400-121550600	Weak transcription	Fetal Intestine Large	intestine
8	chr8:121503200-121563000	Weak transcription	Esophagus	oesophagus
9	chr8:121504200-121548200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:121504600-121550400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:121519800-121562200	Weak transcription	Thymus	Thymus
12	chr8:121521400-121549400	Weak transcription	HepG2	liver
13	chr8:121522400-121550800	Weak transcription	Aorta	Aorta
14	chr8:121524400-121550400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:121526200-121544200	Weak transcription	HSMMtube	muscle
16	chr8:121526400-121544000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:121526600-121550600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:121527000-121550800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:121527200-121553400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:121527800-121581600	Weak transcription	Spleen	Spleen
21	chr8:121528800-121543400	Weak transcription	Primary T cells from cord blood	blood
22	chr8:121528800-121550600	Weak transcription	Lung	lung
23	chr8:121529000-121549600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:121529000-121563600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:121529400-121550200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:121529600-121546600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:121530400-121563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:121531800-121549600	Weak transcription	Primary B cells from cord blood	blood
29	chr8:121532000-121546600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:121532200-121544800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr8:121532200-121553200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:121532400-121550600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:121533000-121557600	Weak transcription	Fetal Thymus	thymus
34	chr8:121536400-121562800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:121536400-121574600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:121537600-121550400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:121538200-121543400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:121538400-121543800	Weak transcription	Liver	Liver
39	chr8:121539200-121550600	Weak transcription	NHLF	lung
40	chr8:121539400-121552200	Weak transcription	NHDF-Ad	bronchial
41	chr8:121540200-121548200	Weak transcription	HSMM	muscle
42	chr8:121540400-121550600	Weak transcription	Osteobl	bone
43	chr8:121540400-121555000	Weak transcription	Fetal Intestine Small	intestine
44	chr8:121540600-121543800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:121540600-121550000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:121541200-121543400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:121541800-121544400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:121541800-121550200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:121541800-121550600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:121541800-121560200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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