Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:150673108..150675927-chr6:150676449..150678633,2	K562	blood:
2	chr6:150667580..150669709-chr6:150673147..150675127,2	MCF-7	breast:
3	chr6:150668412..150670441-chr6:150671071..150673551,2	K562	blood:
4	chr6:150672100..150674423-chr6:150737681..150739812,2	K562	blood:
5	chr6:150673211..150675475-chr6:150711661..150714265,2	MCF-7	breast:

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

rs_ID	r²[population]
rs12055507	0.82[ASN][1000 genomes]
rs1890519	0.86[ASN][1000 genomes]
rs1890520	0.86[ASN][1000 genomes]
rs2344747	0.88[ASN][1000 genomes]
rs61650392	0.82[ASN][1000 genomes]
rs623882	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62434569	0.82[ASN][1000 genomes]
rs628496	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6901397	0.89[ASN][1000 genomes]
rs6915103	0.89[ASN][1000 genomes]
rs6940067	0.89[ASN][1000 genomes]
rs6940396	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs868247	0.81[ASN][1000 genomes]
rs884678	0.83[ASN][1000 genomes]
rs884679	0.80[ASN][1000 genomes]
rs9371954	0.88[ASN][1000 genomes]
rs9371955	0.88[ASN][1000 genomes]
rs9383792	0.88[ASN][1000 genomes]
rs9383793	0.88[ASN][1000 genomes]
rs9384412	0.82[ASN][1000 genomes]
rs9397882	0.82[ASN][1000 genomes]

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	nsv830843	chr6:150517411-150691173	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2763602	chr6:150581193-150720666	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs623829	AKAP12	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150668400-150673600	Weak transcription	HMEC	breast
2	chr6:150668400-150673600	Weak transcription	NHEK	skin
3	chr6:150672200-150674400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:150672400-150674000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:150672400-150674600	Enhancers	Osteobl	bone
6	chr6:150673000-150674000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:150673000-150674200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:150673000-150674400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:150673000-150674400	Enhancers	NH-A	brain
10	chr6:150673200-150673800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:150673200-150674000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:150673200-150674200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:150673200-150674200	Enhancers	NHDF-Ad	bronchial
14	chr6:150673200-150674400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:150673200-150674400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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