Variant report

Variant	rs73708633
Chromosome Location	chr8:121698661-121698662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10283394	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12547868	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12679633	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57592694	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58358774	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73706703	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73706735	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9297626	0.88[AMR][1000 genomes];0.83[EUR][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121672600-121699600	Weak transcription	HSMM	muscle
2	chr8:121679800-121714600	Weak transcription	Spleen	Spleen
3	chr8:121680600-121704600	Weak transcription	Fetal Intestine Large	intestine
4	chr8:121680800-121701000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:121681400-121704200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:121681600-121699600	Weak transcription	Osteobl	bone
7	chr8:121681600-121701000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:121682200-121700400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:121685400-121714400	Weak transcription	Pancreas	Pancrea
10	chr8:121685600-121714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:121686600-121704400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:121686800-121709000	Weak transcription	Small Intestine	intestine
13	chr8:121687000-121704200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:121688200-121699600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:121688200-121699600	Weak transcription	NHLF	lung
16	chr8:121688200-121701000	Weak transcription	Psoas Muscle	Psoas
17	chr8:121690200-121706600	Strong transcription	HepG2	liver
18	chr8:121690600-121699200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:121690800-121699600	Weak transcription	HSMMtube	muscle
20	chr8:121691200-121703600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:121691400-121705200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:121695000-121704000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:121695400-121699600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:121696000-121700000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:121696800-121699600	Weak transcription	Primary T cells from cord blood	blood
26	chr8:121696800-121703200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:121697000-121698800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr8:121697200-121698800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr8:121697400-121698800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:121697400-121705800	Weak transcription	Aorta	Aorta
31	chr8:121697600-121698800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
32	chr8:121697600-121706200	Weak transcription	Esophagus	oesophagus
33	chr8:121697800-121704000	Weak transcription	Fetal Stomach	stomach
34	chr8:121697800-121704200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:121697800-121704200	Weak transcription	Fetal Intestine Small	intestine
36	chr8:121697800-121704200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:121697800-121704200	Weak transcription	Gastric	stomach
38	chr8:121697800-121704200	Weak transcription	Lung	lung
39	chr8:121697800-121705200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:121697800-121706200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:121697800-121706200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr8:121697800-121713600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:121697800-121714400	Weak transcription	Placenta	Placenta
44	chr8:121698000-121703000	Strong transcription	Primary B cells from cord blood	blood
45	chr8:121698200-121704200	Weak transcription	Ovary	ovary
46	chr8:121698400-121699600	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:121698400-121704600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:121698400-121709000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:121698600-121698800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:121698600-121698800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

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