Variant report

Variant	rs73169446
Chromosome Location	chr8:2094593-2094594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:2086567..2089007-chr8:2094171..2096918,2	K562	blood:
2	chr8:2083371..2086382-chr8:2092735..2096107,4	K562	blood:

Variant related genes	Relation type
ENSG00000036448	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13264265	0.80[AMR][1000 genomes]
rs13271873	0.80[EUR][1000 genomes]
rs17752155	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66746701	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67313412	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67371404	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67489990	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs68035375	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs68053310	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73169447	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73169450	0.83[AFR][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2076000-2109600	Weak transcription	Right Atrium	heart
2	chr8:2076400-2097800	Strong transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:2076600-2096800	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:2079400-2094600	Weak transcription	Fetal Heart	heart
5	chr8:2079400-2095800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr8:2080800-2096800	Strong transcription	Left Ventricle	heart
7	chr8:2085400-2094600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:2086200-2096800	Weak transcription	Spleen	Spleen
9	chr8:2087200-2095400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr8:2087400-2095400	Enhancers	Primary T cells from cord blood	blood
11	chr8:2089400-2095400	Weak transcription	Ovary	ovary
12	chr8:2090200-2096400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:2090200-2096600	Weak transcription	Psoas Muscle	Psoas
14	chr8:2090400-2095000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:2090400-2096400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:2091000-2095400	Enhancers	Fetal Thymus	thymus
17	chr8:2091000-2095600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:2092400-2095400	Enhancers	Fetal Brain Male	brain
19	chr8:2092800-2095000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:2093000-2094600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:2093000-2095400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:2093000-2096600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:2093000-2103400	Weak transcription	Pancreas	Pancrea
24	chr8:2093000-2107200	Weak transcription	Gastric	stomach
25	chr8:2093200-2098400	Weak transcription	Fetal Stomach	stomach
26	chr8:2093400-2094600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:2093600-2095000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr8:2093600-2095200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr8:2093600-2095400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:2093600-2095400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:2093600-2096200	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:2093800-2095400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr8:2093800-2095600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr8:2093800-2096200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr8:2093800-2096200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:2094000-2122400	Weak transcription	Right Ventricle	heart
37	chr8:2094200-2094600	Active TSS	Osteobl	bone
38	chr8:2094400-2094600	Enhancers	Brain Hippocampus Middle	brain
39	chr8:2094400-2095200	Enhancers	Brain Anterior Caudate	brain

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