Variant report

Variant	rs9643147
Chromosome Location	chr8:121705780-121705781
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11995748	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4242317	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4503138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6990640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836660	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643148	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1954833	chr8:121705779-121705781	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121679800-121714600	Weak transcription	Spleen	Spleen
2	chr8:121685400-121714400	Weak transcription	Pancreas	Pancrea
3	chr8:121685600-121714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:121686800-121709000	Weak transcription	Small Intestine	intestine
5	chr8:121690200-121706600	Strong transcription	HepG2	liver
6	chr8:121697400-121705800	Weak transcription	Aorta	Aorta
7	chr8:121697600-121706200	Weak transcription	Esophagus	oesophagus
8	chr8:121697800-121706200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:121697800-121706200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr8:121697800-121713600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:121697800-121714400	Weak transcription	Placenta	Placenta
12	chr8:121698400-121709000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:121698800-121706200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:121698800-121706200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:121699600-121706200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:121699800-121714200	Weak transcription	Fetal Thymus	thymus
17	chr8:121701000-121706000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:121701000-121706000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr8:121701200-121706200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:121701200-121707600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:121702400-121706000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:121702400-121706200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:121702600-121706000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:121702800-121706200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:121703000-121706200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:121703000-121714200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:121703200-121705800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:121703200-121706000	Strong transcription	Primary T cells from cord blood	blood
29	chr8:121703600-121706400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr8:121703800-121706200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:121704000-121706000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:121704000-121706200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:121704000-121714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:121704200-121706000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:121704200-121706200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:121704200-121706200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:121704200-121706200	Strong transcription	Fetal Intestine Small	intestine
38	chr8:121704200-121706200	Strong transcription	Gastric	stomach
39	chr8:121704200-121706200	Genic enhancers	Lung	lung
40	chr8:121704200-121706600	Strong transcription	Primary B cells from cord blood	blood
41	chr8:121704400-121706200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
42	chr8:121704600-121706200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:121704600-121706200	Strong transcription	Fetal Intestine Large	intestine
44	chr8:121704800-121706000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:121704800-121706200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:121704800-121706200	Strong transcription	Liver	Liver
47	chr8:121704800-121714400	Weak transcription	Psoas Muscle	Psoas
48	chr8:121705000-121706000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:121705000-121706000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:121705200-121706000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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