Variant report

Variant	rs11172731
Chromosome Location	chr12:59203400-59203401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11172711	0.93[AMR][1000 genomes]
rs11172717	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11172730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172759	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11172771	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11172773	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172774	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172775	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172777	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172778	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172779	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172780	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172783	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172784	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172786	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172787	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172790	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1121270	0.86[ASN][1000 genomes]
rs1148531	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11514001	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11514217	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11514219	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11514220	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11514221	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11520079	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11520080	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11520081	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11520082	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11520084	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12366986	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12367092	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12367116	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12367975	0.93[AMR][1000 genomes]
rs12368328	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12369527	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12370599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12371811	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12372281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121454	0.93[AMR][1000 genomes]
rs17121505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121548	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17121569	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17121576	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17121582	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2279718	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2293659	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55920960	0.82[AMR][1000 genomes]
rs74099636	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1049807	chr12:59069437-59227711	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv818918	chr12:59189114-59223679	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2757504	chr12:59191729-59234072	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv899126	chr12:59199972-59255857	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 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	chr12:59198400-59205200	Weak transcription	HSMMtube	muscle
2	chr12:59203000-59203600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:59203000-59203600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:59203000-59204400	Enhancers	Stomach Mucosa	stomach
5	chr12:59203000-59205000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:59203000-59206800	Enhancers	Liver	Liver
7	chr12:59203200-59203800	Enhancers	Gastric	stomach
8	chr12:59203200-59205200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:59203200-59207600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:59203400-59203600	Enhancers	Left Ventricle	heart
11	chr12:59203400-59203800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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