Variant report

Variant	rs12576429
Chromosome Location	chr11:119865221-119865222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1108315	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11217596	1.00[EUR][1000 genomes]
rs11217597	1.00[EUR][1000 genomes]
rs11217604	1.00[EUR][1000 genomes]
rs11217606	1.00[EUR][1000 genomes]
rs11217607	1.00[EUR][1000 genomes]
rs11217611	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11217614	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11217615	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217619	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217624	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217626	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217628	1.00[EUR][1000 genomes]
rs12224282	1.00[EUR][1000 genomes]
rs12573850	1.00[EUR][1000 genomes]
rs12574341	1.00[EUR][1000 genomes]
rs12574743	1.00[EUR][1000 genomes]
rs12575504	1.00[EUR][1000 genomes]
rs12576741	1.00[EUR][1000 genomes]
rs17123510	1.00[EUR][1000 genomes]
rs36015387	1.00[EUR][1000 genomes]
rs56683142	1.00[EUR][1000 genomes]
rs58861512	1.00[EUR][1000 genomes]
rs60280067	1.00[EUR][1000 genomes]
rs72645471	1.00[EUR][1000 genomes]
rs72645472	1.00[EUR][1000 genomes]
rs72645473	1.00[EUR][1000 genomes]
rs72645474	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72645475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72645476	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72645477	1.00[EUR][1000 genomes];0.96[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1037777	chr11:119842515-119898368	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541179	chr11:119842515-119898368	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035918	chr11:119853069-119879255	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119859000-119867000	Enhancers	Brain Substantia Nigra	brain
2	chr11:119859000-119867600	Enhancers	Brain Hippocampus Middle	brain
3	chr11:119859000-119867600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr11:119860800-119869400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:119861000-119866400	Enhancers	Esophagus	oesophagus
6	chr11:119862000-119871400	Weak transcription	Brain Germinal Matrix	brain
7	chr11:119863600-119866600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:119864200-119867600	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:119864800-119871600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:119865000-119866400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:119865200-119865600	Weak transcription	Brain Anterior Caudate	brain
12	chr11:119865200-119866000	Weak transcription	Brain Angular Gyrus	brain
13	chr11:119865200-119866200	Weak transcription	HMEC	breast

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