Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81992257..81994454-chr16:82060416..82062861,2	K562	blood:

Variant related genes	Relation type
ENSG00000260682	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13337293	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs16956274	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs16956406	1.00[TSI][hapmap]
rs34751854	1.00[EUR][1000 genomes]
rs4435247	1.00[TSI][hapmap]
rs4889446	1.00[TSI][hapmap]
rs8045494	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8046533	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8048090	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8049750	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8060993	1.00[EUR][1000 genomes]
rs8062348	1.00[TSI][hapmap]
rs8063114	0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063275	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8191048	1.00[GIH][hapmap]
rs8191049	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs8191050	1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs8191167	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9926028	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9926211	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
4	esv3321716	chr16:82060451-82065049	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82058000-82065600	Weak transcription	Gastric	stomach
2	chr16:82058600-82062400	Enhancers	Duodenum Mucosa	Duodenum
3	chr16:82059400-82062200	Enhancers	Fetal Intestine Large	intestine
4	chr16:82060000-82062000	Enhancers	Fetal Intestine Small	intestine
5	chr16:82060600-82061800	Weak transcription	Small Intestine	intestine
6	chr16:82060600-82062000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:82060600-82062200	Enhancers	NHEK	skin
8	chr16:82060800-82061400	Enhancers	HMEC	breast
9	chr16:82060800-82062000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:82060800-82062200	Enhancers	Liver	Liver
11	chr16:82061000-82062000	Enhancers	Stomach Mucosa	stomach
12	chr16:82061000-82066600	Weak transcription	Pancreas	Pancrea
13	chr16:82061000-82066800	Weak transcription	Esophagus	oesophagus
14	chr16:82061200-82062000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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