Variant report

Variant	rs11180592
Chromosome Location	chr12:75997236-75997237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10785197	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11180576	0.86[EUR][1000 genomes]
rs11180577	0.84[EUR][1000 genomes]
rs11180591	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12299578	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1351328	0.86[EUR][1000 genomes]
rs1383101	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1542570	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1679380	0.85[EUR][1000 genomes]
rs4882638	0.92[EUR][1000 genomes]
rs57091991	0.85[EUR][1000 genomes]
rs7297463	0.88[EUR][1000 genomes]
rs73185062	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7960251	0.87[EUR][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

No data

Chromatin state (count:11 , 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	chr12:75992600-75997400	Weak transcription	Hela-S3	cervix
4	chr12:75993000-75999600	Weak transcription	Brain Germinal Matrix	brain
5	chr12:75993400-75997400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:75996400-75997400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:75996400-75997400	Weak transcription	NHDF-Ad	bronchial
8	chr12:75997200-75997600	Enhancers	HUVEC	blood vessel
9	chr12:75997200-75997800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:75997200-75997800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:75997200-75997800	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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