Variant report

Variant	esv1157394
Chromosome Location	chr20:16561236-16561237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:16550509..16554024-chr20:16560848..16563415,3	MCF-7	breast:
2	chr20:16554484..16557263-chr20:16559352..16563570,6	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 55 )

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	rs398081274	chr20:16561236-16561237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs398088330	chr20:16561237-16561238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16556400-16562400	Weak transcription	Left Ventricle	heart
2	chr20:16559400-16562000	Enhancers	Fetal Intestine Large	intestine
3	chr20:16559600-16561800	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr20:16559600-16561800	Enhancers	NHDF-Ad	bronchial
5	chr20:16559600-16562000	Enhancers	Duodenum Mucosa	Duodenum
6	chr20:16559600-16562000	Enhancers	Fetal Intestine Small	intestine
7	chr20:16559600-16562200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr20:16559800-16562000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr20:16559800-16562200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:16559800-16564600	Enhancers	Fetal Brain Male	brain
11	chr20:16559800-16567000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr20:16560000-16561400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:16560000-16561600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr20:16560000-16561600	Enhancers	HMEC	breast
15	chr20:16560000-16561800	Enhancers	Osteobl	bone
16	chr20:16560000-16562000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr20:16560000-16562000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:16560000-16562000	Enhancers	Stomach Mucosa	stomach
19	chr20:16560000-16562200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:16560000-16562200	Enhancers	NHEK	skin
21	chr20:16560000-16562400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr20:16560000-16562600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:16560200-16561400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr20:16560200-16561400	Enhancers	HSMMtube	muscle
25	chr20:16560200-16561600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr20:16560200-16561600	Enhancers	Brain Germinal Matrix	brain
27	chr20:16560200-16561600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr20:16560200-16561600	Enhancers	NHLF	lung
29	chr20:16560200-16562200	Enhancers	Fetal Lung	lung
30	chr20:16560400-16561600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr20:16560400-16561600	Enhancers	Hela-S3	cervix
32	chr20:16560600-16561400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr20:16560600-16561400	Enhancers	A549	lung
34	chr20:16560600-16561600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr20:16560800-16561600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr20:16560800-16561600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr20:16560800-16561600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr20:16560800-16561600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr20:16560800-16561600	Enhancers	Adipose Nuclei	Adipose
40	chr20:16560800-16561600	Enhancers	Fetal Brain Female	brain
41	chr20:16560800-16561600	Enhancers	Fetal Stomach	stomach
42	chr20:16560800-16561600	Enhancers	Lung	lung
43	chr20:16560800-16561600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr20:16560800-16561800	Weak transcription	NH-A	brain
45	chr20:16560800-16562000	Enhancers	Colon Smooth Muscle	Colon
46	chr20:16560800-16562200	Enhancers	Stomach Smooth Muscle	stomach
47	chr20:16561000-16561400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr20:16561000-16562400	Enhancers	Fetal Muscle Leg	muscle
49	chr20:16561200-16561600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr20:16561200-16561800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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