Variant report

Variant	rs62478456
Chromosome Location	chr8:2073189-2073190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10088902	0.99[ASN][1000 genomes]
rs1550452	0.82[ASN][1000 genomes]
rs28418592	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28645479	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3735977	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3779823	0.83[ASN][1000 genomes]
rs4258028	0.81[EUR][1000 genomes]
rs4529490	0.81[EUR][1000 genomes]
rs62478457	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73169429	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843362	0.86[EUR][1000 genomes];0.92[ASN][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:13 , 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	chr8:2068000-2074200	Weak transcription	Right Ventricle	heart
7	chr8:2070000-2074200	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:2071600-2075000	Weak transcription	Psoas Muscle	Psoas
9	chr8:2072400-2074600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:2072600-2074600	Weak transcription	Brain Substantia Nigra	brain
11	chr8:2072800-2075000	Weak transcription	Brain Anterior Caudate	brain
12	chr8:2073000-2073200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:2073000-2074000	Weak transcription	Spleen	Spleen

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

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