Variant report

Variant	rs62478457
Chromosome Location	chr8:2074055-2074056
allele	A/C
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	0.81[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]
rs62478456	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73169429	1.00[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: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

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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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