Variant report

Variant	rs62501424
Chromosome Location	chr8:2109805-2109806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1440289	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17064790	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17064798	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17064803	0.98[EUR][1000 genomes]
rs17685247	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17752483	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17752495	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17752600	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1866722	0.88[AMR][1000 genomes]
rs5028635	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57245404	0.88[AMR][1000 genomes]
rs60167642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60880349	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62501423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6558614	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6981174	0.88[AMR][1000 genomes]
rs7007222	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7015065	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7016542	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7464271	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7812397	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7828468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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: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	chr8:2108000-2110200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:2108000-2110200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:2108200-2110400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:2108200-2110600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:2108600-2110000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:2109200-2111000	Enhancers	Fetal Brain Male	brain
15	chr8:2109400-2110200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:2109400-2112000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:2109600-2110200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:2109600-2110200	Enhancers	Left Ventricle	heart
19	chr8:2109600-2110200	Enhancers	Pancreas	Pancrea
20	chr8:2109600-2110200	Enhancers	Right Atrium	heart
21	chr8:2109800-2110200	Enhancers	Primary T cells fromperipheralblood	blood

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