Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73458624..73460863-chr6:73463471..73466417,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16882798	1.00[ASW][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1935518	1.00[EUR][1000 genomes]
rs1935521	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1935524	1.00[EUR][1000 genomes]
rs1935525	1.00[EUR][1000 genomes]
rs2179953	0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2796002	1.00[EUR][1000 genomes]
rs2796004	1.00[EUR][1000 genomes]
rs2995344	1.00[EUR][1000 genomes]
rs7770272	0.80[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9442833	1.00[EUR][1000 genomes]
rs9442849	1.00[EUR][1000 genomes]
rs9442852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9442857	1.00[EUR][1000 genomes]
rs9446723	1.00[EUR][1000 genomes]
rs9446744	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9446747	0.90[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9446765	1.00[EUR][1000 genomes]
rs9446766	1.00[EUR][1000 genomes]
rs9446767	1.00[EUR][1000 genomes]
rs9446768	1.00[EUR][1000 genomes]
rs9446770	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830689	chr6:73385557-73544404	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830690	chr6:73391428-73574304	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv886154	chr6:73442239-73471683	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7743377	MSX1	trans	lymphoblastoid	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73452600-73469800	Weak transcription	Aorta	Aorta
2	chr6:73459600-73464200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:73460000-73468800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:73460000-73469600	Weak transcription	HSMM	muscle
5	chr6:73460400-73468600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:73461000-73467000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:73461000-73468800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:73463000-73465600	Weak transcription	NHEK	skin

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