Variant report

Variant	rs12132402
Chromosome Location	chr1:170274580-170274581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170273398..170275086-chr1:170277805..170279619,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1034185	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10494487	0.81[ASN][1000 genomes]
rs10919349	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10919378	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10919379	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10919382	0.81[ASN][1000 genomes]
rs1113231	1.00[CHB][hapmap]
rs11586686	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12116910	1.00[CHB][hapmap]
rs12121358	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12126109	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12127149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12128082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12129359	0.81[ASN][1000 genomes]
rs12130105	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12132288	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12135696	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12137241	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12138644	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12139302	0.81[ASN][1000 genomes]
rs12141935	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12143611	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12407889	0.81[ASN][1000 genomes]
rs12408130	0.81[ASN][1000 genomes]
rs12732119	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12734846	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12748912	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12753359	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1332963	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1332964	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1333142	1.00[CHB][hapmap]
rs1537390	1.00[CHB][hapmap]
rs17346122	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17346171	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17350179	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1999523	1.00[CHB][hapmap]
rs2095135	0.81[ASN][1000 genomes]
rs28436845	0.81[ASN][1000 genomes]
rs34161857	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34860969	0.81[ASN][1000 genomes]
rs35084451	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35833908	0.81[ASN][1000 genomes]
rs4256872	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4300285	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4489621	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4558042	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4575137	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4578264	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6657395	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6667077	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684260	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6698352	1.00[CHB][hapmap]
rs7516510	0.81[ASN][1000 genomes]
rs7534693	0.81[ASN][1000 genomes]
rs7537355	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170270400-170279200	Weak transcription	Aorta	Aorta
2	chr1:170271800-170278600	Weak transcription	Right Atrium	heart
3	chr1:170272600-170275400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:170273200-170276800	Weak transcription	NH-A	brain
5	chr1:170273200-170278600	Weak transcription	Ovary	ovary
6	chr1:170273400-170274800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:170274400-170275200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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