Variant report

Variant	rs62479967
Chromosome Location	chr8:2077986-2077987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17064844	1.00[AFR][1000 genomes]
rs17064857	1.00[AFR][1000 genomes]
rs17064865	1.00[AFR][1000 genomes]
rs17685326	1.00[AFR][1000 genomes]
rs17752388	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17752636	1.00[AFR][1000 genomes]
rs17759031	1.00[AFR][1000 genomes]
rs55634999	1.00[AFR][1000 genomes]
rs55641345	0.80[AMR][1000 genomes]
rs55837260	1.00[AFR][1000 genomes]
rs56095029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56124008	1.00[AFR][1000 genomes]
rs62478453	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62478455	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62478458	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62479960	0.86[EUR][1000 genomes]
rs62479964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62480005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62501380	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2075400-2078600	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr8:2075400-2084000	Weak transcription	Spleen	Spleen
3	chr8:2075600-2092600	Weak transcription	Esophagus	oesophagus
4	chr8:2075800-2079000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:2075800-2080800	Weak transcription	Pancreas	Pancrea
6	chr8:2075800-2086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:2075800-2091400	Weak transcription	Gastric	stomach
8	chr8:2076000-2078400	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:2076000-2078600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:2076000-2079000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr8:2076000-2082400	Weak transcription	Aorta	Aorta
12	chr8:2076000-2085200	Weak transcription	Brain Anterior Caudate	brain
13	chr8:2076000-2085200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:2076000-2087000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:2076000-2092800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:2076000-2093400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:2076000-2094400	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:2076000-2109600	Weak transcription	Right Atrium	heart
19	chr8:2076200-2078600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:2076200-2078800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr8:2076200-2083600	Enhancers	Fetal Thymus	thymus
22	chr8:2076200-2085200	Weak transcription	Liver	Liver
23	chr8:2076200-2092400	Weak transcription	HSMMtube	muscle
24	chr8:2076400-2078800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:2076400-2079000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:2076400-2079000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:2076400-2079200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:2076400-2086600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:2076400-2097800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:2076600-2078200	Strong transcription	Right Ventricle	heart
31	chr8:2076600-2078800	Weak transcription	Primary B cells from cord blood	blood
32	chr8:2076600-2078800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:2076600-2078800	Weak transcription	Fetal Heart	heart
34	chr8:2076600-2079000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:2076600-2079000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:2076600-2079000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:2076600-2079000	Enhancers	Primary T cells from cord blood	blood
38	chr8:2076600-2079600	Strong transcription	Fetal Muscle Leg	muscle
39	chr8:2076600-2085000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:2076600-2092800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:2076600-2096800	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:2076800-2078200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:2076800-2078400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:2076800-2078600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:2076800-2079000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:2076800-2079000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr8:2076800-2079200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:2076800-2079400	Strong transcription	Left Ventricle	heart
49	chr8:2077000-2078600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:2077000-2078600	Weak transcription	Thymus	Thymus

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