Variant report

Variant	rs62478455
Chromosome Location	chr8:2070881-2070882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17064844	1.00[AFR][1000 genomes]
rs17064857	1.00[AFR][1000 genomes]
rs17064865	1.00[AFR][1000 genomes]
rs17685326	1.00[AFR][1000 genomes]
rs17752388	1.00[AFR][1000 genomes]
rs17752636	1.00[AFR][1000 genomes]
rs17759031	1.00[AFR][1000 genomes]
rs55634999	1.00[AFR][1000 genomes]
rs55837260	1.00[AFR][1000 genomes]
rs56095029	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56124008	1.00[AFR][1000 genomes]
rs62478453	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62478458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62479960	0.84[EUR][1000 genomes]
rs62479964	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62479967	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62480005	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62501380	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2034600-2074200	Weak transcription	Fetal Heart	heart
2	chr8:2035000-2075000	Weak transcription	Brain Angular Gyrus	brain
3	chr8:2053400-2074000	Strong transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:2063000-2074200	Strong transcription	Left Ventricle	heart
5	chr8:2067200-2074200	Weak transcription	Fetal Kidney	kidney
6	chr8:2067400-2071200	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:2068000-2074200	Weak transcription	Right Ventricle	heart
8	chr8:2068200-2072000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:2070000-2071600	Strong transcription	Psoas Muscle	Psoas
10	chr8:2070000-2072000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:2070000-2074200	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:2070600-2071000	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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