Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95525963..95527643-chr9:95559825..95562774,2	K562	blood:

Variant related genes	Relation type
ENSG00000185963	Chromatin interaction

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

rs_ID	r²[population]
rs10992394	0.85[EUR][1000 genomes]
rs10992404	0.88[EUR][1000 genomes]
rs10992406	0.88[EUR][1000 genomes]
rs10992426	0.89[EUR][1000 genomes]
rs10992433	0.91[EUR][1000 genomes]
rs10992472	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10992475	0.88[EUR][1000 genomes]
rs12236788	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12237216	0.88[EUR][1000 genomes]
rs1407944	0.90[EUR][1000 genomes]
rs16908555	0.89[ASN][1000 genomes]
rs1853427	0.88[EUR][1000 genomes]
rs2277164	0.82[EUR][1000 genomes]
rs72618187	0.88[EUR][1000 genomes]
rs7850075	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7850871	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7851947	0.91[EUR][1000 genomes]
rs7855203	0.85[AMR][1000 genomes]
rs7863741	0.82[ASN][1000 genomes]
rs912261	0.88[EUR][1000 genomes]
rs9775970	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430081	chr9:95502571-95568110	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv831654	chr9:95542920-95720961	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv982595	chr9:95551536-95561640	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10821017	ECM2	cis	Muscle Skeletal	GTEx
rs10821017	CENPP	cis	multi-tissue	Pritchard
rs10821017	BICD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95558600-95569600	Weak transcription	Right Atrium	heart
2	chr9:95559000-95563000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:95560600-95564400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:95560800-95561000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:95560800-95561000	Bivalent Enhancer	GM12878-XiMat	blood
6	chr9:95560800-95561000	Enhancers	NHEK	skin
7	chr9:95560800-95561600	Enhancers	Esophagus	oesophagus
8	chr9:95560800-95563400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:95560800-95563600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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