Variant report

Variant	rs62501422
Chromosome Location	chr8:2109745-2109746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11990352	0.80[AMR][1000 genomes]
rs17064822	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17685422	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17685428	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752465	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752654	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752935	0.80[AMR][1000 genomes]
rs62501425	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62501426	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62501429	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62501430	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62501431	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985236	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73559820	0.80[AMR][1000 genomes]
rs73559825	0.80[AMR][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2094000-2122400	Weak transcription	Right Ventricle	heart
2	chr8:2101000-2118000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:2104400-2110200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:2104400-2110400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:2104600-2110000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:2104600-2110600	Weak transcription	Primary T cells from cord blood	blood
7	chr8:2104600-2110600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:2104600-2122200	Weak transcription	Fetal Thymus	thymus
9	chr8:2108000-2109800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:2108000-2110200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:2108000-2110200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:2108200-2110400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:2108200-2110600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:2108600-2110000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:2109200-2111000	Enhancers	Fetal Brain Male	brain
16	chr8:2109400-2110200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:2109400-2112000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:2109600-2110200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:2109600-2110200	Enhancers	Left Ventricle	heart
20	chr8:2109600-2110200	Enhancers	Pancreas	Pancrea
21	chr8:2109600-2110200	Enhancers	Right Atrium	heart

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