Variant report

Variant	rs73134224
Chromosome Location	chr20:52293809-52293810
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:52293804..52295870-chr20:52297078..52299402,2	K562	blood:
2	chr20:46297200..46298880-chr20:52293096..52295279,2	MCF-7	breast:
3	chr17:57922155..57923678-chr20:52293195..52295297,2	MCF-7	breast:
4	chr20:52293539..52297422-chr20:55838657..55844085,6	MCF-7	breast:
5	chr17:57919302..57920964-chr20:52293056..52294711,2	MCF-7	breast:
6	chr20:52292606..52295996-chr20:55839810..55843726,4	MCF-7	breast:
7	chr20:52293720..52294594-chr20:52486327..52486831,2	MCF-7	breast:
8	chr20:52276634..52278992-chr20:52292801..52294676,2	K562	blood:
9	chr15:39704919..39707647-chr20:52293554..52295684,2	MCF-7	breast:
10	chr20:52282635..52286285-chr20:52290622..52294810,4	K562	blood:
11	chr20:52293284..52296681-chr20:52354469..52357320,5	K562	blood:
12	chr20:52293647..52294506-chr3:135102495..135103315,2	MCF-7	breast:
13	chr1:149820155..149822370-chr20:52293518..52295023,2	MCF-7	breast:
14	chr17:58847653..58850591-chr20:52293280..52296113,2	MCF-7	breast:
15	chr20:52292608..52296429-chr20:52329359..52332532,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261716	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000238468	Chromatin interaction
ENSG00000203819	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs6022657	0.96[EUR][1000 genomes]
rs73134208	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73134212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73134213	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73134226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73134230	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73134232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73134236	0.87[AMR][1000 genomes]
rs73151671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73151680	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834006	chr20:52182498-52309366	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
4	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
5	nsv912935	chr20:52221906-52337118	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	101 gene(s)	inside rSNPs	diseases
6	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
7	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
9	nsv518277	chr20:52276452-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv912938	chr20:52276452-52328338	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv178618	chr20:52287845-52293962	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52287000-52294200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr20:52287600-52294200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr20:52288200-52294400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr20:52289600-52294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr20:52289600-52294000	Weak transcription	HSMMtube	muscle
6	chr20:52289600-52294200	Weak transcription	HSMM	muscle
7	chr20:52289600-52294200	Weak transcription	NH-A	brain
8	chr20:52289600-52295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr20:52289800-52294000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr20:52290000-52294000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr20:52291400-52296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:52292600-52294400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr20:52293000-52294200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr20:52293000-52294400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr20:52293400-52295400	Flanking Active TSS	HepG2	liver
16	chr20:52293400-52299600	Enhancers	Placenta	Placenta
17	chr20:52293600-52294000	Flanking Active TSS	Liver	Liver
18	chr20:52293600-52294000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr20:52293600-52294200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr20:52293600-52294200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:52293600-52294200	Enhancers	Fetal Intestine Small	intestine
22	chr20:52293600-52294200	Enhancers	Osteobl	bone
23	chr20:52293600-52294400	Enhancers	Primary hematopoietic stem cells	blood
24	chr20:52293600-52294400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr20:52293600-52294400	Enhancers	Fetal Intestine Large	intestine
26	chr20:52293600-52294400	Enhancers	Fetal Thymus	thymus
27	chr20:52293600-52294800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr20:52293600-52294800	Enhancers	Pancreas	Pancrea
29	chr20:52293600-52296600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr20:52293600-52296800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr20:52293800-52294000	Enhancers	A549	lung
32	chr20:52293800-52294000	Enhancers	K562	blood
33	chr20:52293800-52294600	Enhancers	Primary B cells from cord blood	blood
34	chr20:52293800-52294600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr20:52293800-52295200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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