Variant report

Variant	rs12653785
Chromosome Location	chr5:127111017-127111018
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10041967	0.81[EUR][1000 genomes]
rs10061252	0.80[EUR][1000 genomes]
rs1007623	0.81[EUR][1000 genomes]
rs10519953	1.00[CEU][hapmap]
rs10519960	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1086527	0.82[EUR][1000 genomes]
rs1086531	0.82[EUR][1000 genomes]
rs1086532	0.82[EUR][1000 genomes]
rs1086534	0.81[EUR][1000 genomes]
rs10900792	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11241938	0.81[EUR][1000 genomes]
rs11241939	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11241942	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11950864	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957799	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1213827	0.81[EUR][1000 genomes]
rs1228156	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1234542	0.81[EUR][1000 genomes]
rs12652197	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1399829	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1421747	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1432958	0.82[EUR][1000 genomes]
rs1515640	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1560673	0.95[CEU][hapmap]
rs173580	0.81[EUR][1000 genomes]
rs173581	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1816404	0.81[EUR][1000 genomes]
rs1816405	0.81[EUR][1000 genomes]
rs1849938	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs187461	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1897525	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs193736	0.81[EUR][1000 genomes]
rs248689	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs248692	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs248709	1.00[CEU][hapmap];0.96[CHB][hapmap]
rs248711	0.82[EUR][1000 genomes]
rs248713	0.82[EUR][1000 genomes]
rs248716	0.83[EUR][1000 genomes]
rs248717	0.82[EUR][1000 genomes]
rs248718	0.81[EUR][1000 genomes]
rs248722	0.83[EUR][1000 genomes]
rs248724	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[EUR][1000 genomes]
rs248730	0.81[EUR][1000 genomes]
rs248731	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs248732	0.81[EUR][1000 genomes]
rs248733	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs248735	0.81[EUR][1000 genomes]
rs248737	0.80[EUR][1000 genomes]
rs248738	0.81[EUR][1000 genomes]
rs248739	0.81[EUR][1000 genomes]
rs248740	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs248741	0.81[EUR][1000 genomes]
rs248742	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2569142	0.82[EUR][1000 genomes]
rs2569144	0.82[EUR][1000 genomes]
rs2569146	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2569148	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2673749	0.81[EUR][1000 genomes]
rs2673763	0.82[EUR][1000 genomes]
rs2673772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4361571	0.80[EUR][1000 genomes]
rs54201	0.81[EUR][1000 genomes]
rs57883466	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59513079	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62373501	0.83[EUR][1000 genomes]
rs62373502	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595789	0.83[EUR][1000 genomes]
rs7714847	1.00[CEU][hapmap];0.96[CHB][hapmap]
rs790827	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs791074	0.82[EUR][1000 genomes]
rs812059	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127110800-127111200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:127110800-127111200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:127110800-127111200	Enhancers	Gastric	stomach
4	chr5:127111000-127111400	Enhancers	Placenta	Placenta

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