Variant report

Variant	rs6064049
Chromosome Location	chr20:52748760-52748761
allele	C/G
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 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	chr12:52636521..52638723-chr20:52748359..52750383,2	MCF-7	breast:
7	chr20:52747890..52749451-chr6:41757775..41760209,2	MCF-7	breast:
8	chr12:53344317..53347285-chr20:52748753..52751041,2	MCF-7	breast:
9	chr20:52747087..52748781-chr20:58288479..58290443,2	MCF-7	breast:
10	chr17:57927648..57930495-chr20:52747447..52749860,2	MCF-7	breast:
11	chr20:52748698..52751291-chr5:43063719..43066495,2	MCF-7	breast:
12	chr17:56755806..56758420-chr20:52746879..52748787,2	MCF-7	breast:
13	chr17:56735202..56737939-chr20:52748696..52751920,4	MCF-7	breast:
14	chr17:56736366..56738088-chr20:52748194..52751006,3	MCF-7	breast:
15	chr20:52209246..52211514-chr20:52746813..52748766,2	MCF-7	breast:
16	chr20:46417525..46420204-chr20:52747771..52750602,2	MCF-7	breast:
17	chr20:46616780..46618691-chr20:52748141..52750829,2	MCF-7	breast:
18	chr17:56707619..56710651-chr20:52747363..52752620,6	MCF-7	breast:
19	chr17:56704127..56711907-chr20:52729106..52752952,70	MCF-7	breast:
20	chr20:52747148..52749996-chr4:40425542..40427397,2	MCF-7	breast:
21	chr20:52747406..52750042-chr20:52765504..52767989,2	K562	blood:
22	chr20:52746323..52749260-chr3:62223062..62225490,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196562	Chromatin interaction
ENSG00000237423	Chromatin interaction
ENSG00000225410	Chromatin interaction
ENSG00000111057	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000268745	Chromatin interaction
ENSG00000265039	Chromatin interaction
ENSG00000135480	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1477635	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477637	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6022974	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6022975	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6068799	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6068800	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6068801	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6068802	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6068803	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6068804	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6127107	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6127108	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52744600-52749800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:52748000-52749800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr20:52748000-52750400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr20:52748200-52748800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:52748200-52748800	Enhancers	Primary B cells from cord blood	blood
6	chr20:52748200-52748800	Enhancers	Fetal Muscle Trunk	muscle
7	chr20:52748200-52748800	Enhancers	A549	lung
8	chr20:52748200-52749000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr20:52748200-52749000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:52748200-52749000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr20:52748200-52749000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:52748200-52749000	Enhancers	Osteobl	bone
13	chr20:52748200-52749600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr20:52748200-52749600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:52748200-52749600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr20:52748200-52749600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr20:52748200-52749600	Enhancers	NHDF-Ad	bronchial
18	chr20:52748200-52749600	Enhancers	NHEK	skin
19	chr20:52748200-52750000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr20:52748200-52750200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr20:52748200-52750200	Enhancers	Placenta	Placenta
22	chr20:52748200-52750400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr20:52748200-52751800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr20:52748200-52751800	Enhancers	HMEC	breast
25	chr20:52748400-52748800	Enhancers	Small Intestine	intestine
26	chr20:52748400-52749000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr20:52748400-52749200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr20:52748400-52749400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:52748400-52749400	Flanking Active TSS	Hela-S3	cervix
30	chr20:52748400-52749600	Enhancers	NH-A	brain
31	chr20:52748400-52749800	Enhancers	Fetal Lung	lung
32	chr20:52748400-52750600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:52748400-52750600	Flanking Active TSS	HepG2	liver
34	chr20:52748400-52750800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr20:52748400-52751400	Enhancers	NHLF	lung
36	chr20:52748600-52748800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr20:52748600-52749000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr20:52748600-52749000	Enhancers	HSMMtube	muscle
39	chr20:52748600-52749200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:52748600-52749600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr20:52748600-52749600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr20:52748600-52749600	Weak transcription	Esophagus	oesophagus
43	chr20:52748600-52749800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr20:52748600-52749800	Enhancers	HSMM	muscle
45	chr20:52748600-52750000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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