Variant report

Variant	rs1493417
Chromosome Location	chr12:86643227-86643228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10160933	1.00[JPT][hapmap]
rs10776953	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10776954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776958	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10776960	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10776967	0.91[EUR][1000 genomes]
rs10858409	0.86[EUR][1000 genomes]
rs10858411	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10858412	1.00[CEU][hapmap];0.96[TSI][hapmap]
rs10858417	0.90[EUR][1000 genomes]
rs10858420	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1097997	0.83[CEU][hapmap];0.81[TSI][hapmap]
rs11103880	1.00[JPT][hapmap]
rs11103946	0.89[EUR][1000 genomes]
rs12309228	1.00[JPT][hapmap]
rs12311272	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12311407	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12311449	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13378062	1.00[JPT][hapmap]
rs1389292	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1389294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1389295	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463749	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1463750	0.83[CEU][hapmap]
rs1493408	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1493413	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493414	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1493416	1.00[ASN][1000 genomes]
rs1493418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493419	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs1493420	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1493421	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1532262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1532263	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1542780	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs1552839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1602850	1.00[ASN][1000 genomes]
rs1628799	0.83[CEU][hapmap];0.85[TSI][hapmap]
rs1689364	0.83[CEU][hapmap]
rs1994863	0.86[EUR][1000 genomes]
rs2131565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2141925	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2178748	1.00[TSI][hapmap]
rs2201281	1.00[JPT][hapmap]
rs2250915	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2405797	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs2405932	0.83[CEU][hapmap]
rs2405934	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs2406120	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2406121	0.92[EUR][1000 genomes]
rs2406128	1.00[CEU][hapmap]
rs2452803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2452806	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2452808	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2452811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2452815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2465142	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465145	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465146	1.00[ASN][1000 genomes]
rs2465148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2465149	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2471561	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2471562	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2471563	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2471564	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2471565	0.83[CEU][hapmap]
rs2471567	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897273	0.96[TSI][hapmap]
rs4329741	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6538021	0.83[CEU][hapmap]
rs6538023	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs6538027	0.89[CEU][hapmap]
rs7134045	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs7134944	0.83[CEU][hapmap];1.00[TSI][hapmap]
rs7137308	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7303642	0.92[EUR][1000 genomes]
rs7312245	0.89[CEU][hapmap]
rs7953494	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954833	0.83[CEU][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7963957	0.86[EUR][1000 genomes]
rs7966656	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7972185	0.83[CEU][hapmap];1.00[TSI][hapmap]
rs7975314	1.00[TSI][hapmap]
rs839099	0.84[CEU][hapmap]
rs839100	0.83[CEU][hapmap]
rs839107	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs839109	0.84[CEU][hapmap]
rs839112	0.83[CEU][hapmap]
rs839114	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs839116	0.83[CEU][hapmap]
rs839117	0.84[CEU][hapmap]
rs839134	0.84[CEU][hapmap]
rs839138	0.84[CEU][hapmap]
rs839139	0.84[CEU][hapmap]
rs839147	0.83[CEU][hapmap]
rs839162	0.85[TSI][hapmap]
rs839166	0.84[CEU][hapmap]
rs839183	0.83[CEU][hapmap]
rs844433	0.83[CEU][hapmap]
rs844434	0.89[CEU][hapmap]
rs844437	0.84[CEU][hapmap]
rs858213	0.83[CEU][hapmap]

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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86641200-86644600	Enhancers	Fetal Heart	heart
2	chr12:86643200-86643400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr12:86643200-86644200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:86643200-86644200	Enhancers	NH-A	brain
5	chr12:86643200-86644400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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