Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9064841..9066882-chr18:9068388..9070026,2	K562	blood:

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

rs_ID	r²[population]
rs10468793	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11662294	0.99[ASN][1000 genomes]
rs11664578	0.92[ASN][1000 genomes]
rs11665492	0.99[ASN][1000 genomes]
rs13381712	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16954740	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16954743	0.99[ASN][1000 genomes]
rs16954746	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1940459	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1940460	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61528529	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6506637	0.99[ASN][1000 genomes]
rs6506638	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7228816	0.99[ASN][1000 genomes]
rs8093805	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9973017	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9973018	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9973019	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9973027	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9973029	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9973049	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9973111	0.93[EUR][1000 genomes];0.99[ASN][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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	esv1832073	chr18:9048118-9094498	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9056600-9068000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:9061600-9065200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr18:9061800-9068000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr18:9062200-9066000	Weak transcription	Placenta	Placenta
5	chr18:9063000-9066000	Enhancers	GM12878-XiMat	blood
6	chr18:9063200-9065400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr18:9063200-9066000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr18:9063800-9065200	Weak transcription	K562	blood
9	chr18:9063800-9066600	Weak transcription	Liver	Liver
10	chr18:9063800-9069200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr18:9064000-9066800	Weak transcription	Primary B cells from cord blood	blood
12	chr18:9064000-9068000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:9064000-9068400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr18:9064000-9069200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr18:9064200-9065400	Weak transcription	Primary B cells from peripheral blood	blood

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