Variant report

No.	Distal block	Cell Line	Cell type
1	chr14:39709449..39711062-chr14:39734871..39736912,2	K562	blood:
2	chr14:39709841..39712776-chr14:39715835..39718278,2	K562	blood:
3	chr14:39709637..39711959-chr14:39734266..39736938,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10137623	0.94[CHB][hapmap]
rs10140832	0.97[ASN][1000 genomes]
rs1570131	0.80[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17109030	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs17621388	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs17692639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28449389	0.82[EUR][1000 genomes]
rs34843498	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs35280646	0.83[ASN][1000 genomes]
rs443158	0.82[EUR][1000 genomes]
rs4902459	1.00[ASW][hapmap]
rs6571912	0.82[ASW][hapmap]
rs7140766	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7143942	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs715136	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153074	0.89[ASW][hapmap]
rs7155164	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8006182	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs8014839	0.92[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs8015094	0.92[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs8017896	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS 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	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7154632	NKX2-8	cis	parietal	SCAN
rs7154632	SEC23A	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39703600-39735400	Weak transcription	Pancreas	Pancrea
2	chr14:39704400-39734400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:39706200-39715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:39708600-39713400	Strong transcription	Fetal Intestine Large	intestine
5	chr14:39708800-39718000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:39710000-39717400	Strong transcription	HepG2	liver
7	chr14:39710400-39711200	Genic enhancers	Liver	Liver
8	chr14:39710600-39711200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:39710600-39711200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:39710600-39711200	Enhancers	Adipose Nuclei	Adipose
11	chr14:39710600-39711200	Enhancers	Osteobl	bone
12	chr14:39710600-39711400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:39710600-39716000	Strong transcription	Fetal Intestine Small	intestine
14	chr14:39710800-39711200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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