Variant report

Variant	esv1251936
Chromosome Location	chr20:13449017-13449018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 56 )

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	rs71334122	chr20:13449017-13449018	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386393356	chr20:13449018-13449019	Weak transcription Enhancers 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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13379200-13463000	Weak transcription	HSMM	muscle
2	chr20:13395600-13477800	Weak transcription	Gastric	stomach
3	chr20:13421800-13450000	Weak transcription	Fetal Lung	lung
4	chr20:13422000-13460400	Weak transcription	Primary B cells from cord blood	blood
5	chr20:13422000-13461200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr20:13430000-13467800	Weak transcription	Ovary	ovary
7	chr20:13430200-13467800	Weak transcription	Pancreas	Pancrea
8	chr20:13433800-13452200	Weak transcription	Fetal Intestine Small	intestine
9	chr20:13434000-13450000	Weak transcription	Fetal Intestine Large	intestine
10	chr20:13434800-13449600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr20:13435400-13460400	Weak transcription	Fetal Thymus	thymus
12	chr20:13435400-13462000	Weak transcription	Left Ventricle	heart
13	chr20:13435600-13454200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr20:13435600-13460600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr20:13436600-13458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:13436600-13460800	Weak transcription	Primary T cells from cord blood	blood
17	chr20:13438400-13452600	Strong transcription	Dnd41	blood
18	chr20:13438800-13450000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr20:13439600-13450000	Weak transcription	HepG2	liver
20	chr20:13442600-13461800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr20:13442600-13471600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr20:13442800-13467800	Weak transcription	Aorta	Aorta
23	chr20:13443400-13461200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr20:13444800-13452400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr20:13445000-13460200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:13445400-13467800	Weak transcription	Fetal Stomach	stomach
27	chr20:13445600-13449800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr20:13445600-13450800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr20:13445600-13461000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr20:13446200-13460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr20:13447400-13450000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr20:13448000-13450000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:13448800-13449600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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