Variant report

Variant	rs10283394
Chromosome Location	chr8:121699811-121699812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12545570	1.00[CEU][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs12547868	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679633	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4478618	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57592694	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58358774	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73323165	0.90[EUR][1000 genomes]
rs73706703	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73706728	0.85[EUR][1000 genomes]
rs73708633	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73710008	0.83[EUR][1000 genomes]
rs9297626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv6369	chr8:121654665-121699920	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121679800-121714600	Weak transcription	Spleen	Spleen
2	chr8:121680600-121704600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:121680800-121701000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:121681400-121704200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:121681600-121701000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:121682200-121700400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:121685400-121714400	Weak transcription	Pancreas	Pancrea
8	chr8:121685600-121714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:121686600-121704400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:121686800-121709000	Weak transcription	Small Intestine	intestine
11	chr8:121687000-121704200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:121688200-121701000	Weak transcription	Psoas Muscle	Psoas
13	chr8:121690200-121706600	Strong transcription	HepG2	liver
14	chr8:121691200-121703600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:121691400-121705200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:121695000-121704000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:121696000-121700000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:121696800-121703200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:121697400-121705800	Weak transcription	Aorta	Aorta
20	chr8:121697600-121706200	Weak transcription	Esophagus	oesophagus
21	chr8:121697800-121704000	Weak transcription	Fetal Stomach	stomach
22	chr8:121697800-121704200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:121697800-121704200	Weak transcription	Fetal Intestine Small	intestine
24	chr8:121697800-121704200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:121697800-121704200	Weak transcription	Gastric	stomach
26	chr8:121697800-121704200	Weak transcription	Lung	lung
27	chr8:121697800-121705200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:121697800-121706200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:121697800-121706200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr8:121697800-121713600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:121697800-121714400	Weak transcription	Placenta	Placenta
32	chr8:121698000-121703000	Strong transcription	Primary B cells from cord blood	blood
33	chr8:121698200-121704200	Weak transcription	Ovary	ovary
34	chr8:121698400-121704600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:121698400-121709000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:121698600-121701000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:121698600-121702400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:121698800-121700200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:121698800-121702800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr8:121698800-121706200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:121698800-121706200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:121699000-121700200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:121699400-121701000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:121699400-121701000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:121699400-121701200	Enhancers	Fetal Kidney	kidney
46	chr8:121699400-121701600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr8:121699400-121704200	Strong transcription	Liver	Liver
48	chr8:121699600-121700600	Enhancers	HSMM	muscle
49	chr8:121699600-121700600	Enhancers	HSMMtube	muscle
50	chr8:121699600-121700600	Enhancers	Osteobl	bone

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