Variant report

Variant	rs623882
Chromosome Location	chr6:150673177-150673178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12055507	0.80[ASN][1000 genomes]
rs1890519	0.84[ASN][1000 genomes]
rs1890520	0.85[ASN][1000 genomes]
rs2344747	0.86[ASN][1000 genomes]
rs61650392	0.80[ASN][1000 genomes]
rs623829	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62434569	0.80[ASN][1000 genomes]
rs628496	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6901397	0.88[ASN][1000 genomes]
rs6915103	0.88[ASN][1000 genomes]
rs6940067	0.88[ASN][1000 genomes]
rs6940396	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs884678	0.81[ASN][1000 genomes]
rs9371954	0.86[ASN][1000 genomes]
rs9371955	0.86[ASN][1000 genomes]
rs9383792	0.86[ASN][1000 genomes]
rs9383793	0.86[ASN][1000 genomes]
rs9384412	0.80[ASN][1000 genomes]
rs9397882	0.80[ASN][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	nsv830843	chr6:150517411-150691173	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2763602	chr6:150581193-150720666	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs623882	AKAP12	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150668400-150673600	Weak transcription	HMEC	breast
2	chr6:150668400-150673600	Weak transcription	NHEK	skin
3	chr6:150670000-150673200	Weak transcription	NHDF-Ad	bronchial
4	chr6:150672200-150674400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:150672400-150674000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:150672400-150674600	Enhancers	Osteobl	bone
7	chr6:150672800-150673200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:150673000-150674000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:150673000-150674200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:150673000-150674400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:150673000-150674400	Enhancers	NH-A	brain

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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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