Variant report

Variant	rs1245055
Chromosome Location	chr1:70051656-70051657
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10157748	0.84[ASN][1000 genomes]
rs10489552	0.84[JPT][hapmap]
rs10889840	0.88[ASN][1000 genomes]
rs10889842	0.88[ASN][1000 genomes]
rs11209495	0.88[ASN][1000 genomes]
rs11209496	0.90[ASN][1000 genomes]
rs11209505	0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12036330	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs12084695	0.86[CHB][hapmap];0.81[CHD][hapmap];0.83[ASN][1000 genomes]
rs12122895	0.90[ASN][1000 genomes]
rs12136900	0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap]
rs1245059	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1245060	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1245062	0.92[CEU][hapmap];0.87[CHB][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1245066	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12564056	0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs12750288	0.83[ASN][1000 genomes]
rs1417438	0.86[GIH][hapmap]
rs1572984	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs17131004	0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap]
rs2025598	0.84[ASN][1000 genomes]
rs2066296	0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs2764536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2901340	0.86[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs36080227	0.84[ASN][1000 genomes]
rs61782242	0.84[ASN][1000 genomes]
rs61782244	0.84[ASN][1000 genomes]
rs6662257	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6699502	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs699223	0.82[ASN][1000 genomes]
rs800923	0.84[ASN][1000 genomes]
rs810347	0.84[ASN][1000 genomes]
rs810348	0.86[CHB][hapmap];0.84[JPT][hapmap];0.84[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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70035600-70053200	Weak transcription	Pancreas	Pancrea
2	chr1:70050200-70052800	Weak transcription	Fetal Brain Female	brain
3	chr1:70050600-70053200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:70050600-70054200	Weak transcription	Fetal Stomach	stomach
5	chr1:70051400-70052000	Enhancers	Fetal Lung	lung
6	chr1:70051400-70052200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:70051400-70053800	Enhancers	Fetal Brain Male	brain
8	chr1:70051600-70053000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:70051600-70055000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:70051600-70061800	Weak transcription	Brain Angular Gyrus	brain

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