Variant report

Variant	rs1026783
Chromosome Location	chr12:75997547-75997548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12422473	0.85[ASN][1000 genomes]
rs12423477	0.83[ASN][1000 genomes]
rs12423509	0.85[ASN][1000 genomes]
rs12424436	0.83[ASN][1000 genomes]
rs12424441	0.83[ASN][1000 genomes]
rs12424725	0.80[ASN][1000 genomes]
rs12425236	0.83[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs12425465	0.81[ASN][1000 genomes]
rs12578478	0.85[ASN][1000 genomes]
rs12579390	0.83[ASN][1000 genomes]
rs34281469	0.83[ASN][1000 genomes]
rs4882633	0.83[MEX][hapmap]
rs58248634	0.86[ASN][1000 genomes]
rs58391657	0.86[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	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers 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 target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1026783	GLIPR1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75980000-76017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:75991800-76004800	Weak transcription	Aorta	Aorta
3	chr12:75993000-75999600	Weak transcription	Brain Germinal Matrix	brain
4	chr12:75997200-75997600	Enhancers	HUVEC	blood vessel
5	chr12:75997200-75997800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:75997200-75997800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:75997200-75997800	Enhancers	Osteobl	bone
8	chr12:75997400-75997800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:75997400-75997800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:75997400-75997800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:75997400-75997800	Enhancers	Hela-S3	cervix
12	chr12:75997400-75997800	Enhancers	HMEC	breast
13	chr12:75997400-75997800	Enhancers	HSMMtube	muscle
14	chr12:75997400-75997800	Enhancers	NHDF-Ad	bronchial
15	chr12:75997400-75998200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:75997400-75998400	Enhancers	HSMM	muscle

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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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