Variant report

Variant	rs6754088
Chromosome Location	chr2:142890187-142890188
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12328773	0.80[ASN][1000 genomes]
rs1349223	0.99[ASN][1000 genomes]
rs1375610	0.89[ASN][1000 genomes]
rs1449486	0.99[ASN][1000 genomes]
rs1449487	0.99[ASN][1000 genomes]
rs997357	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv875254	chr2:142833327-142931146	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006247	chr2:142851056-143289465	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142885400-142890800	Active TSS	Brain Anterior Caudate	brain
2	chr2:142885600-142890400	Active TSS	Brain Substantia Nigra	brain
3	chr2:142889200-142890800	Active TSS	Brain Hippocampus Middle	brain
4	chr2:142889200-142900800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:142889600-142890400	Weak transcription	Hela-S3	cervix
6	chr2:142889800-142892400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:142889800-142892400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:142889800-142892600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:142890000-142890600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:142890000-142892400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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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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