Variant report

Variant	rs10089517
Chromosome Location	chr8:60178721-60178722
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10113215	0.86[AMR][1000 genomes]
rs72621438	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821794	0.86[AMR][1000 genomes]
rs7832404	0.83[ASN][1000 genomes]
rs7837791	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831328	chr8:60062971-60288276	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1029441	chr8:60099776-60539141	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv539629	chr8:60099776-60539141	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv831329	chr8:60162977-60356031	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Visceral adipose tissue/subcutaneous adipose tissue ratio	22589738	GWAS catalog
Hyperopia	25233373	GWAS catalog

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60173200-60179800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:60177200-60179200	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:60177200-60179600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:60177600-60194800	Weak transcription	Fetal Brain Male	brain
5	chr8:60178400-60179200	Enhancers	Hela-S3	cervix
6	chr8:60178600-60179200	Enhancers	Stomach Smooth Muscle	stomach
7	chr8:60178600-60179400	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:60178600-60179400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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