Variant report

Variant	rs73137452
Chromosome Location	chr20:52873644-52873645
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52852456..52856671-chr20:52869199..52873917,7	MCF-7	breast:
2	chr11:103363122..103363960-chr20:52873238..52874146,2	MCF-7	breast:
3	chr20:52700468..52702286-chr20:52872421..52874639,2	MCF-7	breast:
4	chr20:52827870..52830545-chr20:52871348..52873782,2	MCF-7	breast:
5	chr20:52853706..52856539-chr20:52873064..52874754,2	MCF-7	breast:
6	chr20:52823499..52826425-chr20:52871011..52873800,2	MCF-7	breast:
7	chr20:52195149..52196759-chr20:52873374..52876133,2	MCF-7	breast:
8	chr13:85330865..85331631-chr20:52873521..52874297,2	MCF-7	breast:
9	chr20:52691602..52694513-chr20:52873450..52876265,2	MCF-7	breast:
10	chr20:52830936..52833739-chr20:52871496..52873804,2	MCF-7	breast:
11	chr20:52872209..52873824-chr20:52943616..52946580,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101132	Chromatin interaction

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

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

rs_ID	r²[population]
rs11698157	0.81[EUR][1000 genomes]
rs28460139	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs292116	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292117	0.93[ASN][1000 genomes]
rs292122	1.00[ASN][1000 genomes]
rs292128	1.00[ASN][1000 genomes]
rs292142	0.84[AMR][1000 genomes]
rs4811496	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56726174	0.93[ASN][1000 genomes]
rs6023079	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6127146	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs986709	0.81[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	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	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52870600-52874400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr20:52870800-52874200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr20:52870800-52874400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:52871000-52875000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:52871000-52875000	Enhancers	HMEC	breast
6	chr20:52871000-52875400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr20:52871200-52874200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr20:52871200-52875000	Enhancers	NHEK	skin
9	chr20:52871400-52874200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr20:52871400-52874400	Enhancers	Hela-S3	cervix
11	chr20:52871400-52874400	Enhancers	Osteobl	bone
12	chr20:52871400-52875000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:52871800-52874000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:52871800-52874000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr20:52871800-52874200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr20:52872000-52874200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr20:52872200-52874400	Enhancers	NH-A	brain
18	chr20:52872400-52875000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr20:52872800-52873800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:52872800-52883800	Weak transcription	Pancreas	Pancrea
21	chr20:52873000-52874200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr20:52873000-52874200	Enhancers	NHLF	lung
23	chr20:52873200-52874000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr20:52873400-52874200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr20:52873600-52874000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr20:52873600-52874000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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