Variant report

Variant	rs2465142
Chromosome Location	chr12:86646214-86646215
allele	C/T
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]
rs10776953	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10776954	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776958	0.90[EUR][1000 genomes]
rs10776960	0.88[EUR][1000 genomes]
rs10776967	0.89[EUR][1000 genomes]
rs10858409	0.88[EUR][1000 genomes]
rs10858411	0.91[EUR][1000 genomes]
rs10858417	0.88[EUR][1000 genomes]
rs10858420	0.89[EUR][1000 genomes]
rs11103946	0.87[EUR][1000 genomes]
rs12311272	0.88[ASN][1000 genomes]
rs12311407	0.88[ASN][1000 genomes]
rs12311449	0.88[ASN][1000 genomes]
rs1389292	0.85[EUR][1000 genomes]
rs1389294	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1389295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463749	1.00[ASN][1000 genomes]
rs1493408	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1493413	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493414	0.90[EUR][1000 genomes]
rs1493416	1.00[ASN][1000 genomes]
rs1493417	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493418	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493420	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1493421	0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1532262	0.85[ASN][1000 genomes]
rs1532263	0.82[EUR][1000 genomes]
rs1552839	0.88[ASN][1000 genomes]
rs1602850	1.00[ASN][1000 genomes]
rs2131565	0.88[ASN][1000 genomes]
rs2250915	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2406120	0.90[EUR][1000 genomes]
rs2406121	0.94[EUR][1000 genomes]
rs2452803	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452805	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2452806	1.00[ASN][1000 genomes]
rs2452808	0.89[EUR][1000 genomes]
rs2452811	0.88[ASN][1000 genomes]
rs2452815	0.88[ASN][1000 genomes]
rs2465145	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465146	1.00[ASN][1000 genomes]
rs2465148	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2471561	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2471562	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2471563	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2471567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4329741	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7137308	1.00[ASN][1000 genomes]
rs7303642	0.94[EUR][1000 genomes]
rs7953494	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954833	0.89[EUR][1000 genomes]
rs7963957	0.88[EUR][1000 genomes]
rs7966656	0.90[EUR][1000 genomes]
rs839107	0.81[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	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053087	chr12:86569126-86733418	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541564	chr12:86569126-86733418	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1037003	chr12:86610040-86798121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1045386	chr12:86616015-86733418	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv541565	chr12:86616015-86733418	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86643400-86646600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:86643800-86648000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:86644000-86650000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:86644200-86655400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:86644400-86647400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:86645000-86648000	Enhancers	Fetal Heart	heart

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