Variant report

Variant	rs11180577
Chromosome Location	chr12:75968283-75968284
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10785197	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11180559	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11180576	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11180591	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11180592	0.84[EUR][1000 genomes]
rs1147994	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12299578	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1351328	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1383098	0.97[ASN][1000 genomes]
rs1383101	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1480001	0.97[ASN][1000 genomes]
rs1480002	0.97[ASN][1000 genomes]
rs1542570	0.87[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1552040	0.89[ASN][1000 genomes]
rs1611928	0.95[ASN][1000 genomes]
rs1627431	0.97[ASN][1000 genomes]
rs1630753	0.95[ASN][1000 genomes]
rs1679380	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1697753	0.97[ASN][1000 genomes]
rs1795374	0.96[ASN][1000 genomes]
rs1795380	0.97[ASN][1000 genomes]
rs1795382	0.97[ASN][1000 genomes]
rs2620687	0.97[ASN][1000 genomes]
rs2652022	0.97[ASN][1000 genomes]
rs3912214	0.93[ASN][1000 genomes]
rs4882638	0.87[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes]
rs56904707	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57091991	0.97[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7297463	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73185062	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7960251	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11180577	ATXN7L3B	cis	cerebellum	SCAN
rs11180577	E2F7	cis	parietal	SCAN
rs11180577	GLIPR1L2	cis	parietal	SCAN
rs11180577	GLIPR1L2	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75965400-75977200	Weak transcription	Fetal Brain Female	brain
2	chr12:75966800-75968800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:75967000-75978800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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