Variant report

Variant	rs73706732
Chromosome Location	chr8:121725610-121725611
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:13)

rs_ID	r²[population]
rs57322022	1.00[AMR][1000 genomes]
rs58113621	1.00[AMR][1000 genomes]
rs58458628	1.00[AMR][1000 genomes]
rs61396577	1.00[AMR][1000 genomes]
rs61541466	0.82[AFR][1000 genomes]
rs73706730	0.82[AFR][1000 genomes]
rs73706738	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73707103	1.00[AMR][1000 genomes]
rs73710003	1.00[AMR][1000 genomes]
rs73710006	1.00[AMR][1000 genomes]
rs73710014	1.00[AMR][1000 genomes]
rs73710059	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121714800-121729400	Weak transcription	Right Atrium	heart
2	chr8:121715000-121728200	Weak transcription	Psoas Muscle	Psoas
3	chr8:121716200-121726200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:121716200-121726200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:121719400-121736600	Weak transcription	HSMM	muscle
6	chr8:121719600-121736400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:121719600-121739000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:121719800-121729400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:121720000-121727000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:121720000-121729400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:121720200-121726800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:121722800-121737000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:121723000-121728000	Weak transcription	Spleen	Spleen
14	chr8:121723000-121729600	Weak transcription	Left Ventricle	heart
15	chr8:121723000-121730800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:121723000-121731400	Weak transcription	Fetal Thymus	thymus
17	chr8:121723000-121734200	Weak transcription	Aorta	Aorta
18	chr8:121723400-121727000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:121723400-121737000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:121723800-121726400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:121723800-121729400	Weak transcription	Lung	lung
22	chr8:121723800-121730200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:121724000-121726200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:121724000-121726200	Weak transcription	Fetal Kidney	kidney
25	chr8:121724000-121726400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:121724000-121726400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:121724000-121727000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:121724400-121726000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:121724400-121726200	Weak transcription	HepG2	liver
30	chr8:121724400-121727200	Weak transcription	Liver	Liver
31	chr8:121724600-121727600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr8:121725000-121727800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr8:121725200-121728800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:121725400-121728200	Enhancers	Primary T cells from cord blood	blood
35	chr8:121725400-121730600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:121725400-121736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:121725600-121726600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:121725600-121727000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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