Variant report

Variant	rs1148531
Chromosome Location	chr12:59197223-59197224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10877178	0.82[CHB][hapmap]
rs10877180	1.00[CEU][hapmap]
rs11172711	0.88[AMR][1000 genomes]
rs11172717	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11172727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11172730	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172731	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172737	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172739	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172742	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172759	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11172771	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11172773	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172774	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172775	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172777	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172778	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172779	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172780	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172786	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172787	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172790	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172791	1.00[CHB][hapmap]
rs1121270	0.86[ASN][1000 genomes]
rs11514001	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11514217	0.84[EUR][1000 genomes]
rs11514219	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11514220	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11514221	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11520079	0.84[EUR][1000 genomes]
rs11520080	0.84[EUR][1000 genomes]
rs11520081	0.80[EUR][1000 genomes]
rs11520082	0.80[EUR][1000 genomes]
rs11520084	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12366986	0.84[EUR][1000 genomes]
rs12367092	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12367116	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12367975	0.88[AMR][1000 genomes]
rs12368328	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12369527	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12370599	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12371811	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12372281	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121454	0.88[AMR][1000 genomes]
rs17121505	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121548	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17121569	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17121576	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17121582	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2279718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2293659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs74099636	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	nsv826390	chr12:59097995-59199786	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59196200-59202000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:59196400-59197400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:59196600-59197600	Weak transcription	HSMMtube	muscle

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