Variant report

Variant	rs62478458
Chromosome Location	chr8:2074122-2074123
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];0.82[EUR][1000 genomes]
rs56124008	1.00[AFR][1000 genomes]
rs62478453	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62478455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62479960	0.83[EUR][1000 genomes]
rs62479964	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62479967	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62480005	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62501380	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[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:16 , 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	chr8:2063000-2074200	Strong transcription	Left Ventricle	heart
4	chr8:2067200-2074200	Weak transcription	Fetal Kidney	kidney
5	chr8:2068000-2074200	Weak transcription	Right Ventricle	heart
6	chr8:2070000-2074200	Strong transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:2071600-2075000	Weak transcription	Psoas Muscle	Psoas
8	chr8:2072400-2074600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:2072600-2074600	Weak transcription	Brain Substantia Nigra	brain
10	chr8:2072800-2075000	Weak transcription	Brain Anterior Caudate	brain
11	chr8:2073400-2074800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:2073800-2075000	Enhancers	Brain Hippocampus Middle	brain
13	chr8:2074000-2074400	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr8:2074000-2074400	Enhancers	Spleen	Spleen
15	chr8:2074000-2075000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:2074000-2075200	Genic enhancers	Skeletal Muscle Female	skeletal muscle

Quick Search:

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

what's new

Quick links