Variant report

Variant	esv3328536
Chromosome Location	chr20:13042852-13047650
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	chr20:13046904..13049128-chr20:13050831..13053226,2	MCF-7	breast:

Extended variants
information (count: 200 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190117174	chr20:13042882-13042883	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115217990	chr20:13042915-13042916	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139914032	chr20:13042916-13042917	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185626116	chr20:13042917-13042918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7362942	chr20:13042938-13042939	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6033606	chr20:13042948-13042949	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6109679	chr20:13042990-13042991	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2254015	chr20:13043014-13043015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190388078	chr20:13043105-13043106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542398049	chr20:13043112-13043113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149831576	chr20:13043142-13043143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180849396	chr20:13043152-13043153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557949755	chr20:13043155-13043156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578085634	chr20:13043175-13043176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185499739	chr20:13043180-13043181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190796579	chr20:13043280-13043281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116309754	chr20:13043281-13043282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6074553	chr20:13043287-13043288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542477364	chr20:13043333-13043334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183896122	chr20:13043336-13043337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188862377	chr20:13043337-13043338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545033898	chr20:13043348-13043349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564425191	chr20:13043420-13043421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533329661	chr20:13043433-13043434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370512391	chr20:13043467-13043468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191746119	chr20:13043468-13043469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142049504	chr20:13043507-13043508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34578202	chr20:13043563-13043564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547518538	chr20:13043608-13043609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567042303	chr20:13043609-13043610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116532313	chr20:13043659-13043660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549396561	chr20:13043663-13043664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186967445	chr20:13043677-13043678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537850835	chr20:13043686-13043687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78745871	chr20:13043723-13043724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571319633	chr20:13043751-13043752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542656327	chr20:13043793-13043794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549921883	chr20:13043834-13043835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533986083	chr20:13043859-13043860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145843323	chr20:13043917-13043918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6041828	chr20:13043918-13043919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368307160	chr20:13043924-13043925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570345831	chr20:13043947-13043948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576324795	chr20:13043984-13043985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147034950	chr20:13044044-13044045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372137167	chr20:13044045-13044046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191862470	chr20:13044063-13044064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183988407	chr20:13044153-13044154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541094094	chr20:13044202-13044203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560999951	chr20:13044273-13044274	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
Autism	22102821	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 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	chr20:13029000-13043000	Strong transcription	Placenta	Placenta
5	chr20:13030600-13074000	Weak transcription	Ovary	ovary
6	chr20:13033800-13046600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:13037200-13046600	Weak transcription	Fetal Intestine Large	intestine
8	chr20:13037200-13047800	Weak transcription	Fetal Intestine Small	intestine
9	chr20:13039600-13065600	Weak transcription	Thymus	Thymus
10	chr20:13039800-13049000	Weak transcription	Liver	Liver
11	chr20:13040600-13052400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr20:13041800-13043000	Enhancers	HMEC	breast
13	chr20:13041800-13043600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:13041800-13043800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:13041800-13043800	Enhancers	NHEK	skin
16	chr20:13042000-13043800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr20:13042000-13043800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:13042600-13076800	Weak transcription	Pancreas	Pancrea
19	chr20:13042800-13046600	Weak transcription	Right Ventricle	heart
20	chr20:13042800-13046600	Weak transcription	HepG2	liver
21	chr20:13042800-13054200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:13043000-13049200	Weak transcription	Placenta	Placenta
23	chr20:13043800-13046600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:13043800-13051000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr20:13045000-13045200	Enhancers	Spleen	Spleen
26	chr20:13045800-13046600	Weak transcription	Aorta	Aorta
27	chr20:13046600-13046800	ZNF genes & repeats	Aorta	Aorta
28	chr20:13046600-13047200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr20:13046600-13047200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr20:13046600-13047200	ZNF genes & repeats	Right Ventricle	heart
31	chr20:13046600-13047200	ZNF genes & repeats	HepG2	liver
32	chr20:13046600-13047400	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr20:13046800-13054200	Weak transcription	Aorta	Aorta
34	chr20:13047200-13048400	Weak transcription	HepG2	liver
35	chr20:13047200-13049000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr20:13047200-13052400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:13047200-13054200	Weak transcription	Right Ventricle	heart
38	chr20:13047400-13048400	Weak transcription	Fetal Intestine Large	intestine

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