Variant report

Variant	rs62214479
Chromosome Location	chr20:52748329-52748330
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52746822..52749791-chr20:53258985..53261806,2	MCF-7	breast:
2	chr17:57922783..57925093-chr20:52747616..52750440,2	MCF-7	breast:
3	chr17:57913131..57926939-chr20:52735776..52751538,42	MCF-7	breast:
4	chr20:46640095..46644047-chr20:52746837..52750756,3	MCF-7	breast:
5	chr20:46413224..46418685-chr20:52746491..52752686,10	MCF-7	breast:
6	chr20:52746471..52748529-chr20:52930718..52933120,2	MCF-7	breast:
7	chr20:52747890..52749451-chr6:41757775..41760209,2	MCF-7	breast:
8	chr20:52747087..52748781-chr20:58288479..58290443,2	MCF-7	breast:
9	chr17:57927648..57930495-chr20:52747447..52749860,2	MCF-7	breast:
10	chr17:56755806..56758420-chr20:52746879..52748787,2	MCF-7	breast:
11	chr17:56736366..56738088-chr20:52748194..52751006,3	MCF-7	breast:
12	chr20:52209246..52211514-chr20:52746813..52748766,2	MCF-7	breast:
13	chr20:46417525..46420204-chr20:52747771..52750602,2	MCF-7	breast:
14	chr20:46616780..46618691-chr20:52748141..52750829,2	MCF-7	breast:
15	chr17:56707619..56710651-chr20:52747363..52752620,6	MCF-7	breast:
16	chr17:56704127..56711907-chr20:52729106..52752952,70	MCF-7	breast:
17	chr20:52747148..52749996-chr4:40425542..40427397,2	MCF-7	breast:
18	chr20:52747406..52750042-chr20:52765504..52767989,2	K562	blood:
19	chr20:52746323..52749260-chr3:62223062..62225490,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201524	Chromatin interaction
ENSG00000237423	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000268745	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12624824	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2045844	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6022979	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6091821	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6091822	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6097777	0.96[ASN][1000 genomes]
rs6097779	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6097789	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6097795	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6097809	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6123360	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6127114	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62214478	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62214503	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8117026	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8120563	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8124440	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8124792	0.98[EUR][1000 genomes];0.96[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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv586280	chr20:52718555-52758416	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	84 gene(s)	inside rSNPs	diseases
3	nsv912945	chr20:52746724-52772741	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52740200-52748600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:52743800-52748400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:52744600-52749800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:52745000-52748400	Weak transcription	NH-A	brain
5	chr20:52748000-52748400	Enhancers	Hela-S3	cervix
6	chr20:52748000-52748400	Enhancers	HepG2	liver
7	chr20:52748000-52749800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:52748000-52750400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr20:52748200-52748600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:52748200-52748600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:52748200-52748600	Enhancers	Esophagus	oesophagus
12	chr20:52748200-52748800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:52748200-52748800	Enhancers	Primary B cells from cord blood	blood
14	chr20:52748200-52748800	Enhancers	Fetal Muscle Trunk	muscle
15	chr20:52748200-52748800	Enhancers	A549	lung
16	chr20:52748200-52749000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr20:52748200-52749000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:52748200-52749000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr20:52748200-52749000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:52748200-52749000	Enhancers	Osteobl	bone
21	chr20:52748200-52749600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:52748200-52749600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr20:52748200-52749600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr20:52748200-52749600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr20:52748200-52749600	Enhancers	NHDF-Ad	bronchial
26	chr20:52748200-52749600	Enhancers	NHEK	skin
27	chr20:52748200-52750000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr20:52748200-52750200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr20:52748200-52750200	Enhancers	Placenta	Placenta
30	chr20:52748200-52750400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr20:52748200-52751800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:52748200-52751800	Enhancers	HMEC	breast

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