Variant report

Variant	rs73706738
Chromosome Location	chr8:121729860-121729861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

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]
rs73706732	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706743	0.98[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	0.80[AFR][1000 genomes];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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121719400-121736600	Weak transcription	HSMM	muscle
2	chr8:121719600-121736400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:121719600-121739000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:121722800-121737000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr8:121723000-121730800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:121723000-121731400	Weak transcription	Fetal Thymus	thymus
7	chr8:121723000-121734200	Weak transcription	Aorta	Aorta
8	chr8:121723400-121737000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:121723800-121730200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:121725400-121730600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:121725400-121736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:121726400-121731800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr8:121726600-121731800	Weak transcription	Primary B cells from cord blood	blood
14	chr8:121727000-121730400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:121727400-121730800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:121727600-121730200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:121727600-121730600	Weak transcription	Liver	Liver
18	chr8:121727600-121730800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:121727800-121731000	Enhancers	Fetal Muscle Leg	muscle
20	chr8:121728000-121730600	Enhancers	Ovary	ovary
21	chr8:121728200-121730600	Enhancers	Psoas Muscle	Psoas
22	chr8:121728200-121736000	Weak transcription	Primary T cells from cord blood	blood
23	chr8:121728400-121730000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:121728400-121730000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:121728400-121730800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:121729000-121739200	Weak transcription	Fetal Stomach	stomach
27	chr8:121729200-121730200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:121729200-121730600	Enhancers	Brain Substantia Nigra	brain
29	chr8:121729400-121730000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:121729400-121730000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:121729400-121730000	Genic enhancers	Spleen	Spleen
32	chr8:121729400-121730000	Strong transcription	NHLF	lung
33	chr8:121729400-121730200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:121729400-121730200	Enhancers	Brain Hippocampus Middle	brain
35	chr8:121729400-121730200	Weak transcription	Esophagus	oesophagus
36	chr8:121729400-121730400	Enhancers	Brain Anterior Caudate	brain
37	chr8:121729400-121730600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:121729400-121730600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:121729400-121730600	Enhancers	Adipose Nuclei	Adipose
40	chr8:121729400-121730600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:121729400-121730600	Enhancers	Right Atrium	heart
42	chr8:121729400-121730800	Genic enhancers	Lung	lung
43	chr8:121729400-121731400	Enhancers	Right Ventricle	heart
44	chr8:121729600-121730200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:121729600-121730600	Enhancers	Fetal Muscle Trunk	muscle
46	chr8:121729600-121730600	Enhancers	Left Ventricle	heart
47	chr8:121729600-121730600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:121729600-121735600	Weak transcription	HSMMtube	muscle
49	chr8:121729800-121730000	Enhancers	Colon Smooth Muscle	Colon
50	chr8:121729800-121730400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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