Variant report

Variant	nsv965933
Chromosome Location	chr20:14438430-14464613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 767 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369937513	chr20:14444762-14444763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539471020	chr20:14444783-14444784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372262698	chr20:14444879-14444880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529640814	chr20:14444910-14444911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375292415	chr20:14444912-14444913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549467488	chr20:14444923-14444924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569545734	chr20:14444943-14444944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531879297	chr20:14444950-14444951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185830417	chr20:14444966-14444967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551973711	chr20:14444971-14444972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571849252	chr20:14445017-14445018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534324088	chr20:14445050-14445051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551840106	chr20:14445052-14445053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147122649	chr20:14445083-14445084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536657473	chr20:14445095-14445096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539376947	chr20:14445099-14445100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556248189	chr20:14445134-14445135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199948352	chr20:14445159-14445160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576306288	chr20:14445189-14445190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538534035	chr20:14445194-14445195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553946324	chr20:14445202-14445203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62204411	chr20:14445217-14445218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375731416	chr20:14445245-14445246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190202913	chr20:14445308-14445309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574411155	chr20:14445356-14445357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36134325	chr20:14445359-14445360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs28768201	chr20:14445421-14445422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6079455	chr20:14445454-14445455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6079456	chr20:14445460-14445461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532061623	chr20:14445509-14445510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552088895	chr20:14445556-14445557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182471434	chr20:14445564-14445565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527885779	chr20:14445599-14445600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547969850	chr20:14445604-14445605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143254337	chr20:14445612-14445613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541803729	chr20:14445669-14445670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550174889	chr20:14445716-14445717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201007086	chr20:14445720-14445721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569933027	chr20:14445737-14445738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369244899	chr20:14445753-14445754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112157041	chr20:14445794-14445795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373424384	chr20:14445802-14445803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538962644	chr20:14445814-14445815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561993161	chr20:14445856-14445857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558423211	chr20:14445891-14445892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201842674	chr20:14445899-14445900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376734151	chr20:14445906-14445907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571965814	chr20:14445907-14445908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534519986	chr20:14445931-14445932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554310808	chr20:14445956-14445957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14444600-14451200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:14447600-14451000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:14447800-14448200	Active TSS	Gastric	stomach
4	chr20:14447800-14448200	Active TSS	Pancreas	Pancrea
5	chr20:14447800-14448400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr20:14447800-14448400	Active TSS	Colonic Mucosa	Colon
7	chr20:14447800-14448400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr20:14447800-14448400	Active TSS	A549	lung
9	chr20:14448000-14448200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr20:14448000-14448200	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr20:14448000-14448400	Active TSS	Duodenum Mucosa	Duodenum
12	chr20:14448000-14448400	Active TSS	Stomach Mucosa	stomach
13	chr20:14448000-14448400	Enhancers	HepG2	liver
14	chr20:14448200-14448400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:14448200-14448400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr20:14448200-14450800	Weak transcription	Gastric	stomach
17	chr20:14448200-14450800	Weak transcription	Pancreas	Pancrea
18	chr20:14448200-14451600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr20:14448400-14448600	Enhancers	Stomach Mucosa	stomach
20	chr20:14448400-14448600	Flanking Active TSS	A549	lung
21	chr20:14448400-14450800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr20:14448400-14450800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr20:14448400-14450800	Weak transcription	HepG2	liver
24	chr20:14448400-14451000	Weak transcription	Colonic Mucosa	Colon
25	chr20:14448400-14451000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr20:14448400-14451200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:14448600-14450800	Weak transcription	Stomach Mucosa	stomach
28	chr20:14448600-14450800	Weak transcription	A549	lung
29	chr20:14450400-14450800	Enhancers	Liver	Liver
30	chr20:14450800-14451200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr20:14450800-14451200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr20:14450800-14451400	Flanking Active TSS	Liver	Liver
33	chr20:14450800-14451400	Enhancers	Stomach Mucosa	stomach
34	chr20:14450800-14451400	Flanking Active TSS	A549	lung
35	chr20:14450800-14451400	Flanking Active TSS	HepG2	liver
36	chr20:14450800-14451800	Enhancers	Duodenum Mucosa	Duodenum
37	chr20:14450800-14451800	Enhancers	Fetal Intestine Small	intestine
38	chr20:14450800-14451800	Enhancers	Gastric	stomach
39	chr20:14450800-14452000	Enhancers	Fetal Intestine Large	intestine
40	chr20:14450800-14452000	Enhancers	Pancreas	Pancrea
41	chr20:14450800-14452200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr20:14450800-14452800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr20:14450800-14461400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr20:14451000-14451200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr20:14451000-14451600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr20:14451000-14451600	Enhancers	Colonic Mucosa	Colon
47	chr20:14451000-14451600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr20:14451000-14451800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr20:14451000-14452000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:14451000-14452000	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links