Variant report

No.	Distal block	Cell Line	Cell type
1	chr17:20944181..20948494-chr17:20954104..20959819,7	K562	blood:
2	chr17:20944770..20948425-chr17:20952239..20957809,9	MCF-7	breast:
3	chr17:20952641..20955684-chr17:20955764..20958455,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124422	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1045162	0.80[ASN][1000 genomes]
rs1127814	0.80[ASN][1000 genomes]
rs12943067	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12946114	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17770614	0.83[ASN][1000 genomes]
rs1871276	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2054464	0.83[ASN][1000 genomes]
rs2127095	0.83[ASN][1000 genomes]
rs2291034	0.82[ASN][1000 genomes]
rs2364326	0.83[ASN][1000 genomes]
rs4445951	0.82[ASN][1000 genomes]
rs4985827	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4985959	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985963	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985967	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4985968	0.87[ASN][1000 genomes]
rs4985969	0.87[ASN][1000 genomes]
rs4985970	0.87[ASN][1000 genomes]
rs4985971	0.87[ASN][1000 genomes]
rs58235085	0.83[ASN][1000 genomes]
rs59543297	0.82[ASN][1000 genomes]
rs6587111	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6618	0.89[ASN][1000 genomes]
rs719093	0.83[ASN][1000 genomes]
rs7209129	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7216921	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs899340	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9911289	0.80[EUR][1000 genomes];0.89[ASN][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	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6587114	RP11-344E13.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20947800-20955000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:20947800-20955000	Weak transcription	Fetal Lung	lung
3	chr17:20947800-20955200	Weak transcription	Pancreas	Pancrea
4	chr17:20954400-20956000	Enhancers	Primary B cells from cord blood	blood
5	chr17:20954400-20958400	Enhancers	Primary B cells from peripheral blood	blood
6	chr17:20954600-20955000	Flanking Active TSS	GM12878-XiMat	blood
7	chr17:20954600-20955200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:20954600-20955800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr17:20954800-20955000	Flanking Active TSS	A549	lung
10	chr17:20954800-20955000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr17:20954800-20955200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr17:20954800-20955200	Enhancers	Colonic Mucosa	Colon
13	chr17:20954800-20955200	Enhancers	Placenta	Placenta
14	chr17:20954800-20955200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr17:20954800-20955200	Enhancers	HepG2	liver
16	chr17:20954800-20955400	Active TSS	Duodenum Mucosa	Duodenum
17	chr17:20954800-20956200	Enhancers	Fetal Stomach	stomach

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