Variant report

Variant	rs11180591
Chromosome Location	chr12:75995739-75995740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10785197	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180559	0.86[ASN][1000 genomes]
rs11180576	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11180577	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11180592	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1147994	0.94[ASN][1000 genomes]
rs12299578	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1351328	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1383098	0.94[ASN][1000 genomes]
rs1383101	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1480001	0.94[ASN][1000 genomes]
rs1480002	0.94[ASN][1000 genomes]
rs1542570	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1552040	0.85[ASN][1000 genomes]
rs1611928	0.91[ASN][1000 genomes]
rs1627431	0.94[ASN][1000 genomes]
rs1630753	0.92[ASN][1000 genomes]
rs1679380	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1697753	0.94[ASN][1000 genomes]
rs1795374	0.93[ASN][1000 genomes]
rs1795380	0.94[ASN][1000 genomes]
rs1795382	0.94[ASN][1000 genomes]
rs2620687	0.94[ASN][1000 genomes]
rs2652022	0.94[ASN][1000 genomes]
rs3912214	0.89[ASN][1000 genomes]
rs4882638	0.96[EUR][1000 genomes]
rs56904707	0.86[ASN][1000 genomes]
rs57091991	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297463	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73185062	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960251	0.94[EUR][1000 genomes];0.95[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

No data

Chromatin state (count:8 , 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	chr12:75993000-75997200	Weak transcription	Osteobl	bone
5	chr12:75993000-75999600	Weak transcription	Brain Germinal Matrix	brain
6	chr12:75993200-75995800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:75993400-75997400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:75995200-75996400	Enhancers	NHDF-Ad	bronchial

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