Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86905357..86907939-chr1:86912947..86914769,2	K562	blood:

Variant related genes	Relation type
ENSG00000137975	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11161808	0.91[JPT][hapmap];1.00[MEX][hapmap]
rs11799749	1.00[ASW][hapmap];1.00[LWK][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs11810074	0.87[YRI][hapmap]
rs12023799	0.81[ASN][1000 genomes]
rs12747430	1.00[CEU][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36096788	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737671	0.89[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.85[ASN][1000 genomes]
rs3765984	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820038	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs3820041	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656103	1.00[ASN][1000 genomes]
rs55812833	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55825812	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55857117	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56187142	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5744303	0.84[EUR][1000 genomes]
rs57955693	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58279400	0.91[AFR][1000 genomes]
rs58658794	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59775624	0.90[ASN][1000 genomes]
rs72951852	0.87[AFR][1000 genomes]
rs72951856	0.91[AFR][1000 genomes]
rs72951859	0.83[AFR][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	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3765987	ZNHIT6	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86896600-86914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:86897200-86922600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:86897200-86922800	Strong transcription	HMEC	breast
4	chr1:86897400-86916000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:86903400-86926800	Weak transcription	Esophagus	oesophagus
6	chr1:86910600-86914400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:86912400-86914800	Strong transcription	NHEK	skin
8	chr1:86912800-86914600	Enhancers	Brain Anterior Caudate	brain
9	chr1:86913200-86914600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:86913200-86915600	Enhancers	K562	blood
11	chr1:86913800-86914600	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:86914000-86915600	Enhancers	Brain Substantia Nigra	brain
13	chr1:86914200-86914600	Enhancers	Brain Angular Gyrus	brain
14	chr1:86914200-86914800	Enhancers	Brain Hippocampus Middle	brain
15	chr1:86914200-86914800	Enhancers	Brain Inferior Temporal Lobe	brain

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