Variant report

Variant	nsv585631
Chromosome Location	chr20:15549323-15561894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 469 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs747398	chr20:15549323-15549324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555168032	chr20:15549350-15549351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573721099	chr20:15549370-15549371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190036881	chr20:15549428-15549429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572731151	chr20:15549476-15549477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577737563	chr20:15549549-15549550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149407598	chr20:15549641-15549642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563583258	chr20:15549681-15549682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535002866	chr20:15549682-15549683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34837093	chr20:15549693-15549694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575296239	chr20:15549751-15549752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534323368	chr20:15549832-15549833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369320811	chr20:15549834-15549835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144763081	chr20:15549841-15549842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530089379	chr20:15549898-15549899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148585902	chr20:15549914-15549915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6043369	chr20:15549963-15549964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546567890	chr20:15549978-15549979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559882304	chr20:15549994-15549995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6043370	chr20:15549996-15549997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532358825	chr20:15550081-15550082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554815686	chr20:15550144-15550145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6079888	chr20:15550204-15550205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145661254	chr20:15550238-15550239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569119513	chr20:15550273-15550274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182288932	chr20:15550286-15550287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115563712	chr20:15550293-15550294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548799405	chr20:15550305-15550306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1233751	chr20:15550306-15550307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576398075	chr20:15550329-15550330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78975077	chr20:15550341-15550342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568064133	chr20:15550413-15550414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73897683	chr20:15550414-15550415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73260606	chr20:15550419-15550420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76228496	chr20:15550467-15550468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34720026	chr20:15550488-15550489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187581438	chr20:15550506-15550507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6135443	chr20:15550547-15550548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557287744	chr20:15550560-15550561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193293397	chr20:15550574-15550575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542441847	chr20:15550604-15550605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6043371	chr20:15550607-15550608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117134074	chr20:15550627-15550628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540294068	chr20:15550633-15550634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201934818	chr20:15550689-15550690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554192267	chr20:15550698-15550699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565042852	chr20:15550779-15550780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368383261	chr20:15550780-15550781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539200510	chr20:15550821-15550822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370143546	chr20:15550840-15550841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15542600-15554000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:15543000-15562200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr20:15543800-15551000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr20:15543800-15554200	Weak transcription	Colon Smooth Muscle	Colon
5	chr20:15544800-15551200	Weak transcription	Brain Substantia Nigra	brain
6	chr20:15550800-15551600	Enhancers	Ovary	ovary
7	chr20:15551000-15551400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr20:15551200-15551400	Enhancers	Brain Substantia Nigra	brain
9	chr20:15551400-15553600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr20:15551400-15553600	Weak transcription	Brain Substantia Nigra	brain
11	chr20:15551600-15552200	Weak transcription	Ovary	ovary
12	chr20:15552200-15552400	Enhancers	Ovary	ovary
13	chr20:15552400-15555200	Weak transcription	Ovary	ovary
14	chr20:15553600-15554400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr20:15553600-15554400	Enhancers	Brain Substantia Nigra	brain
16	chr20:15554000-15554200	Enhancers	Rectal Smooth Muscle	rectum
17	chr20:15554000-15554600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:15554000-15554600	Enhancers	Brain Cingulate Gyrus	brain
19	chr20:15554000-15555600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr20:15554200-15554600	Enhancers	Colon Smooth Muscle	Colon
21	chr20:15554200-15557400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr20:15554600-15558600	Weak transcription	Colon Smooth Muscle	Colon
23	chr20:15554600-15558800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr20:15555200-15556200	Enhancers	Ovary	ovary
25	chr20:15556800-15557600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr20:15557400-15557800	Enhancers	Rectal Smooth Muscle	rectum
27	chr20:15558400-15559600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr20:15558600-15559000	Enhancers	Colon Smooth Muscle	Colon
29	chr20:15558800-15559600	Enhancers	Fetal Intestine Small	intestine
30	chr20:15559000-15563000	Weak transcription	Colon Smooth Muscle	Colon
31	chr20:15559600-15560200	Weak transcription	Fetal Intestine Small	intestine
32	chr20:15560200-15561200	Enhancers	Fetal Intestine Small	intestine
33	chr20:15560200-15561600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr20:15560400-15561600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr20:15560400-15561600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr20:15560600-15561000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr20:15560600-15561600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr20:15560800-15561200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr20:15560800-15561200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr20:15560800-15561200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr20:15560800-15561400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr20:15561000-15561800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr20:15561000-15562000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr20:15561600-15562200	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links