Variant report

Variant	rs2978492
Chromosome Location	chr8:62112556-62112557
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62112094..62114817-chr8:62114903..62119963,4	K562	blood:

Variant related genes	Relation type
ENSG00000213881	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13253027	0.80[ASN][1000 genomes]
rs13263981	0.80[ASN][1000 genomes]
rs13278769	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1817635	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946593	0.80[ASN][1000 genomes]
rs1968908	0.95[ASN][1000 genomes]
rs2129351	0.80[ASN][1000 genomes]
rs2931309	0.80[ASN][1000 genomes]
rs2931312	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2931323	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2931346	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2931351	0.81[EUR][1000 genomes]
rs2931354	0.81[EUR][1000 genomes]
rs2931355	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2931356	0.80[EUR][1000 genomes]
rs2978498	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2978542	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2978543	1.00[ASN][1000 genomes]
rs2978550	0.81[EUR][1000 genomes]
rs2978552	0.80[EUR][1000 genomes]
rs34574871	0.85[AMR][1000 genomes]
rs35741212	0.80[ASN][1000 genomes]
rs35860978	0.80[ASN][1000 genomes]
rs3845282	0.90[ASN][1000 genomes]
rs7818621	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7834568	0.81[EUR][1000 genomes]
rs7838220	0.81[EUR][1000 genomes]
rs7838580	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs956969	0.80[ASN][1000 genomes]
rs9650204	0.80[ASN][1000 genomes]
rs9650205	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv465698	chr8:62036793-62179465	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611426	chr8:62036793-62179465	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv890949	chr8:62073346-62141341	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62112200-62112600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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