Variant report

Variant	rs7008993
Chromosome Location	chr8:121544770-121544771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121544486..121549968-chr8:121551053..121554339,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12675235	0.81[AFR][1000 genomes]
rs13270997	1.00[JPT][hapmap]
rs4565499	0.87[AFR][1000 genomes]
rs6415474	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7834559	1.00[JPT][hapmap]
rs9297619	0.88[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:72 , 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	chr8:121526600-121550600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:121527000-121550800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:121527200-121553400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:121527800-121581600	Weak transcription	Spleen	Spleen
19	chr8:121528800-121550600	Weak transcription	Lung	lung
20	chr8:121529000-121549600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:121529000-121563600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:121529400-121550200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:121529600-121546600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:121530400-121563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:121531800-121549600	Weak transcription	Primary B cells from cord blood	blood
26	chr8:121532000-121546600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:121532200-121544800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:121532200-121553200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:121532400-121550600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:121533000-121557600	Weak transcription	Fetal Thymus	thymus
31	chr8:121536400-121562800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:121536400-121574600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:121537600-121550400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:121539200-121550600	Weak transcription	NHLF	lung
35	chr8:121539400-121552200	Weak transcription	NHDF-Ad	bronchial
36	chr8:121540200-121548200	Weak transcription	HSMM	muscle
37	chr8:121540400-121550600	Weak transcription	Osteobl	bone
38	chr8:121540400-121555000	Weak transcription	Fetal Intestine Small	intestine
39	chr8:121540600-121550000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:121541800-121550200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:121541800-121550600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:121541800-121560200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:121541800-121561600	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:121542000-121548200	Weak transcription	Right Ventricle	heart
45	chr8:121542000-121550800	Weak transcription	Gastric	stomach
46	chr8:121542000-121550800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:121542200-121546800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:121542400-121549400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:121542600-121545800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:121542600-121553200	Weak transcription	Brain Substantia Nigra	brain

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