Variant report

Variant	nsv585445
Chromosome Location	chr20:14431463-14440318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 210 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8122234	chr20:14431463-14431464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112325964	chr20:14431472-14431473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527537711	chr20:14431544-14431545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113917806	chr20:14431631-14431632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373451710	chr20:14431638-14431639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148667333	chr20:14431650-14431651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529771269	chr20:14431714-14431715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377488847	chr20:14431746-14431747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186145737	chr20:14431793-14431794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368929579	chr20:14431836-14431837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142189070	chr20:14431877-14431878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538234779	chr20:14431905-14431906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116886331	chr20:14431951-14431952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6110294	chr20:14431952-14431953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534463143	chr20:14432052-14432053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564959637	chr20:14432102-14432103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190667844	chr20:14432108-14432109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536778843	chr20:14432154-14432155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538813082	chr20:14432159-14432160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182738341	chr20:14432222-14432223	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576553353	chr20:14432237-14432238	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111928681	chr20:14432249-14432250	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545426827	chr20:14432280-14432281	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565244746	chr20:14432297-14432298	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6110295	chr20:14432322-14432323	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572268662	chr20:14432323-14432324	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6110296	chr20:14432367-14432368	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541289653	chr20:14432434-14432435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73612355	chr20:14432472-14432473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529820743	chr20:14432498-14432499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549503589	chr20:14432553-14432554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371684191	chr20:14432586-14432587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147823630	chr20:14432624-14432625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532030893	chr20:14432628-14432629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6042737	chr20:14432637-14432638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532099147	chr20:14432710-14432711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565634180	chr20:14432747-14432748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534254093	chr20:14432776-14432777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550603680	chr20:14432795-14432796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548055510	chr20:14432813-14432814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141784893	chr20:14432850-14432851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543521126	chr20:14432888-14432889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6135149	chr20:14432925-14432926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186400643	chr20:14432954-14432955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536836411	chr20:14432990-14432991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190847689	chr20:14433078-14433079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183040017	chr20:14433079-14433080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141470308	chr20:14433273-14433274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527464382	chr20:14433320-14433321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370718397	chr20:14433419-14433420	Weak transcription Enhancers	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14427400-14433800	Weak transcription	Hela-S3	cervix
2	chr20:14429600-14431600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr20:14431000-14431600	Enhancers	Stomach Mucosa	stomach
4	chr20:14431000-14433200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr20:14431200-14432200	Weak transcription	NHEK	skin
6	chr20:14432200-14432400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:14432200-14432400	Enhancers	NHEK	skin
8	chr20:14432400-14433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:14433400-14434200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr20:14433800-14434000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:14433800-14434000	Enhancers	Hela-S3	cervix
12	chr20:14433800-14434200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:14434000-14434400	Enhancers	Fetal Kidney	kidney
14	chr20:14434200-14437400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr20:14437400-14437600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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