Variant report

Variant	esv2017186
Chromosome Location	chr20:13047498-13047944
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	chr20:13047877..13048475-chr3:30809727..30810708,2	MCF-7	breast:
2	chr20:13046904..13049128-chr20:13050831..13053226,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6109681	chr20:13047504-13047505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74403574	chr20:13047545-13047546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs243878	chr20:13047557-13047558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148377211	chr20:13047569-13047570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557106663	chr20:13047570-13047571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373483156	chr20:13047571-13047572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377207821	chr20:13047572-13047573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6105030	chr20:13047578-13047579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs243879	chr20:13047616-13047617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111574716	chr20:13047681-13047682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143918659	chr20:13047693-13047694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76508874	chr20:13047705-13047706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201942167	chr20:13047709-13047710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371166484	chr20:13047731-13047732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371381742	chr20:13047734-13047735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2749397	chr20:13047747-13047748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2567292	chr20:13047750-13047751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs33978691	chr20:13047801-13047802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534884341	chr20:13047812-13047813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554816807	chr20:13047817-13047818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs243880	chr20:13047838-13047839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537310322	chr20:13047846-13047847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557654297	chr20:13047856-13047857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189023743	chr20:13047891-13047892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546251614	chr20:13047896-13047897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62201743	chr20:13047914-13047915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144482438	chr20:13047936-13047937	Weak transcription Enhancers	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
Autism	22102821	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13003800-13049600	Weak transcription	Lung	lung
2	chr20:13026000-13049400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr20:13028400-13060200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr20:13030600-13074000	Weak transcription	Ovary	ovary
5	chr20:13037200-13047800	Weak transcription	Fetal Intestine Small	intestine
6	chr20:13039600-13065600	Weak transcription	Thymus	Thymus
7	chr20:13039800-13049000	Weak transcription	Liver	Liver
8	chr20:13040600-13052400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr20:13042600-13076800	Weak transcription	Pancreas	Pancrea
10	chr20:13042800-13054200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:13043000-13049200	Weak transcription	Placenta	Placenta
12	chr20:13043800-13051000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr20:13046800-13054200	Weak transcription	Aorta	Aorta
14	chr20:13047200-13048400	Weak transcription	HepG2	liver
15	chr20:13047200-13049000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:13047200-13052400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr20:13047200-13054200	Weak transcription	Right Ventricle	heart
18	chr20:13047400-13048400	Weak transcription	Fetal Intestine Large	intestine
19	chr20:13047800-13049000	Enhancers	Fetal Intestine Small	intestine

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