Variant report

Variant	rs11176462
Chromosome Location	chr12:67256513-67256514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67253380..67256928-chr12:67258329..67261239,3	K562	blood:
2	chr12:67255252..67257877-chr12:67460950..67463258,3	MCF-7	breast:
3	chr12:67253715..67256707-chr12:67270307..67272731,2	K562	blood:

Variant related genes	Relation type
ENSG00000256248	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1001408	0.89[ASN][1000 genomes]
rs10506508	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10506509	0.93[ASN][1000 genomes]
rs11176443	0.90[AMR][1000 genomes]
rs11176448	0.90[AMR][1000 genomes]
rs11176449	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11176450	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11176452	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11176460	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176461	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176466	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11176470	0.92[ASN][1000 genomes]
rs11176473	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176475	0.92[ASN][1000 genomes]
rs11176476	0.89[ASN][1000 genomes]
rs12230393	0.90[AMR][1000 genomes]
rs12319388	0.89[ASN][1000 genomes]
rs1504318	0.92[ASN][1000 genomes]
rs1504319	0.92[ASN][1000 genomes]
rs1504320	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17102997	0.92[ASN][1000 genomes]
rs17247462	0.92[ASN][1000 genomes]
rs17247553	0.89[ASN][1000 genomes]
rs17827783	0.92[ASN][1000 genomes]
rs3924008	0.89[ASN][1000 genomes]
rs4322493	0.89[ASN][1000 genomes]
rs4913509	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58006181	0.89[ASN][1000 genomes]
rs58759095	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61928275	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61928292	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs973018	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs975272	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1050547	chr12:67122154-67314886	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv541521	chr12:67122154-67314886	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1042117	chr12:67171949-67257435	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1038689	chr12:67174430-67257435	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1044061	chr12:67178298-67257941	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1037144	chr12:67203280-67325187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1045087	chr12:67225841-67257941	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv541522	chr12:67225841-67257941	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 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	chr12:67253400-67257800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:67253800-67256800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67254600-67256600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:67256200-67256800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:67256400-67256600	Enhancers	Colon Smooth Muscle	Colon
6	chr12:67256400-67256600	Enhancers	Right Atrium	heart
7	chr12:67256400-67257600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:67256400-67257800	Enhancers	Stomach Mucosa	stomach

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