Variant report

Variant	rs1875902
Chromosome Location	chr8:91866010-91866011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11985020	1.00[AMR][1000 genomes]
rs12114157	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16905610	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16906597	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs16906700	0.83[AMR][1000 genomes]
rs56052985	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694320	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694321	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73695842	0.83[AMR][1000 genomes]
rs73695843	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1875902	NA	cis	multi-tissue	Pritchard
rs1875902	EFCBP1	cis	multi-tissue	Pritchard

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91857400-91871000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:91860200-91870800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:91863000-91880600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:91865000-91866400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:91865600-91871400	Weak transcription	Brain Hippocampus Middle	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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