Variant report

Variant	rs62501431
Chromosome Location	chr8:2117202-2117203
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	0.90[AMR][1000 genomes]
rs17064822	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17685422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17685428	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752511	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752935	0.90[AMR][1000 genomes]
rs62501422	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62501425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62501426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62501429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62501430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73559820	0.90[AMR][1000 genomes]
rs73559825	0.90[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:8 , 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	chr8:2104600-2122200	Weak transcription	Fetal Thymus	thymus
4	chr8:2116600-2117400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:2116600-2117800	Strong transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:2116800-2117400	Strong transcription	Left Ventricle	heart
7	chr8:2117000-2118800	Enhancers	Pancreas	Pancrea
8	chr8:2117200-2118000	Weak transcription	Spleen	Spleen

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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