Variant report

Variant	rs12144443
Chromosome Location	chr1:209513933-209513934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12064516	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12116965	0.92[EUR][1000 genomes]
rs12119349	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12119464	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12119465	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120032	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120757	0.82[EUR][1000 genomes]
rs12121931	0.82[EUR][1000 genomes]
rs12124710	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125098	1.00[CEU][hapmap]
rs12125358	0.82[EUR][1000 genomes]
rs12126305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126769	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128640	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12135244	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12136870	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12137134	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12137788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139847	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12140172	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12140436	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12140751	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12144663	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12144725	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12145008	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145858	0.92[EUR][1000 genomes]
rs13375195	1.00[YRI][hapmap]
rs17014365	1.00[YRI][hapmap]
rs6668608	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74155466	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74155471	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs74155478	0.81[EUR][1000 genomes]
rs9804114	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209506200-209515600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:209506200-209524600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:209513000-209516800	Enhancers	Fetal Lung	lung
4	chr1:209513000-209517200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:209513000-209518600	Enhancers	Fetal Brain Male	brain
6	chr1:209513600-209514400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:209513600-209516000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:209513600-209517600	Enhancers	Fetal Brain Female	brain
9	chr1:209513800-209516200	Enhancers	Fetal Stomach	stomach

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