Variant report

Variant	esv1922220
Chromosome Location	chr20:13483093-13483531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139710416	chr20:13483116-13483117	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562262822	chr20:13483131-13483132	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6042180	chr20:13483136-13483137	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77736466	chr20:13483143-13483144	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6042181	chr20:13483189-13483190	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs568542275	chr20:13483262-13483263	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533344071	chr20:13483275-13483276	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145290807	chr20:13483298-13483299	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537202615	chr20:13483318-13483319	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190933169	chr20:13483321-13483322	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74728723	chr20:13483328-13483329	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73899330	chr20:13483335-13483336	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568996848	chr20:13483359-13483360	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142275304	chr20:13483384-13483385	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78582838	chr20:13483413-13483414	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577612161	chr20:13483436-13483437	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539831719	chr20:13483452-13483453	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553311182	chr20:13483459-13483460	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148846043	chr20:13483461-13483462	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532793894	chr20:13483467-13483468	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542287380	chr20:13483495-13483496	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13463800-13505400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr20:13464000-13493800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr20:13464200-13483400	Weak transcription	Fetal Thymus	thymus
4	chr20:13468000-13483600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:13468200-13483600	Weak transcription	Right Ventricle	heart
6	chr20:13470200-13505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:13471800-13483400	Weak transcription	Fetal Intestine Small	intestine
8	chr20:13473400-13505800	Weak transcription	HSMM	muscle
9	chr20:13474400-13483600	Weak transcription	Left Ventricle	heart
10	chr20:13474400-13496800	Weak transcription	Pancreas	Pancrea
11	chr20:13477400-13484000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:13478200-13503800	Weak transcription	Gastric	stomach
13	chr20:13479000-13483400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:13479200-13486200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:13479400-13483400	Weak transcription	Aorta	Aorta
16	chr20:13479600-13483400	Weak transcription	Fetal Stomach	stomach
17	chr20:13480000-13488200	Weak transcription	NHEK	skin
18	chr20:13480000-13490400	ZNF genes & repeats	Dnd41	blood
19	chr20:13480200-13483400	Weak transcription	Ovary	ovary
20	chr20:13480200-13484400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:13480400-13483400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr20:13480400-13483400	Weak transcription	Thymus	Thymus
23	chr20:13480800-13483200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr20:13480800-13483400	Weak transcription	Primary B cells from cord blood	blood
25	chr20:13481400-13483400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr20:13482000-13483600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr20:13482400-13483200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr20:13482800-13484200	ZNF genes & repeats	Liver	Liver
29	chr20:13482800-13485800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr20:13483000-13484000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr20:13483000-13484000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr20:13483000-13484200	ZNF genes & repeats	Fetal Lung	lung
33	chr20:13483000-13484200	ZNF genes & repeats	A549	lung
34	chr20:13483200-13483600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr20:13483200-13484000	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr20:13483200-13485200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr20:13483200-13485400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr20:13483200-13509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr20:13483400-13483600	ZNF genes & repeats	Fetal Kidney	kidney
40	chr20:13483400-13483800	Strong transcription	Ovary	ovary
41	chr20:13483400-13484000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr20:13483400-13484000	ZNF genes & repeats	Aorta	Aorta
43	chr20:13483400-13484000	ZNF genes & repeats	Fetal Stomach	stomach
44	chr20:13483400-13484000	ZNF genes & repeats	Fetal Thymus	thymus
45	chr20:13483400-13484000	Strong transcription	Thymus	Thymus
46	chr20:13483400-13484200	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr20:13483400-13484200	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr20:13483400-13484200	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr20:13483400-13485000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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