Variant report

Variant	rs73912614
Chromosome Location	chr20:52728957-52728958
allele	C/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52540309..52542377-chr20:52728654..52731257,2	MCF-7	breast:
2	chr17:56736321..56738217-chr20:52727383..52729150,2	MCF-7	breast:
3	chr20:41014500..41016637-chr20:52728500..52731366,2	MCF-7	breast:
4	chr20:41005551..41007113-chr20:52728817..52731376,2	MCF-7	breast:
5	chr20:52727982..52730137-chr3:49057411..49059672,2	MCF-7	breast:
6	chr20:52567558..52570240-chr20:52726705..52729321,2	MCF-7	breast:
7	chr17:56735077..56736894-chr20:52728560..52731584,3	MCF-7	breast:
8	chr20:52482302..52483839-chr20:52727165..52730009,2	MCF-7	breast:
9	chr18:33161152..33162957-chr20:52728933..52730524,2	MCF-7	breast:
10	chr12:46122226..46124327-chr20:52727824..52730094,2	MCF-7	breast:
11	chr20:52728274..52735407-chr20:55838077..55845201,12	MCF-7	breast:
12	chr17:56706370..56714481-chr20:52725604..52746501,43	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189079	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000141429	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000207605	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000199032	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2762917	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52724400-52730400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr20:52724600-52729800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr20:52724800-52729600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr20:52724800-52731400	Weak transcription	Stomach Mucosa	stomach
5	chr20:52725000-52729000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:52725000-52740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr20:52725200-52732000	Enhancers	HepG2	liver
8	chr20:52726600-52730400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr20:52727000-52729600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr20:52727000-52732000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr20:52727200-52729000	Weak transcription	Fetal Intestine Large	intestine
12	chr20:52727400-52730000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:52727400-52731800	Weak transcription	Osteobl	bone
14	chr20:52727800-52730000	Weak transcription	Placenta	Placenta
15	chr20:52728200-52729000	ZNF genes & repeats	A549	lung
16	chr20:52728200-52730600	Enhancers	Liver	Liver
17	chr20:52728200-52737600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:52728400-52729800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr20:52728800-52729200	Enhancers	Adipose Nuclei	Adipose
20	chr20:52728800-52729200	Weak transcription	Colonic Mucosa	Colon
21	chr20:52728800-52729200	Enhancers	NHEK	skin
22	chr20:52728800-52729400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:52728800-52729400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr20:52728800-52729400	Enhancers	Esophagus	oesophagus
25	chr20:52728800-52730600	Enhancers	Small Intestine	intestine
26	chr20:52728800-52730800	Weak transcription	Lung	lung

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