Variant report

Variant	rs6991362
Chromosome Location	chr8:2040420-2040421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs58524877	0.80[AFR][1000 genomes]
rs60309480	0.80[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2023600-2060800	Weak transcription	Spleen	Spleen
2	chr8:2023600-2067000	Weak transcription	Right Atrium	heart
3	chr8:2025000-2049200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:2027800-2048200	Weak transcription	Psoas Muscle	Psoas
5	chr8:2029000-2044000	Weak transcription	Right Ventricle	heart
6	chr8:2034600-2040800	Weak transcription	Pancreas	Pancrea
7	chr8:2034600-2074200	Weak transcription	Fetal Heart	heart
8	chr8:2034800-2050800	Weak transcription	Brain Anterior Caudate	brain
9	chr8:2035000-2045400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:2035000-2049000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:2035000-2051800	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:2035000-2075000	Weak transcription	Brain Angular Gyrus	brain
13	chr8:2035200-2049200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:2035200-2054000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:2037600-2042200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr8:2037800-2040600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:2037800-2040600	Strong transcription	Fetal Muscle Leg	muscle
18	chr8:2038400-2042000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:2039000-2042200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:2039200-2042000	Genic enhancers	Left Ventricle	heart
21	chr8:2039800-2042600	Weak transcription	Fetal Thymus	thymus
22	chr8:2039800-2046800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:2040200-2042200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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