Variant report

Variant	nsv1022843
Chromosome Location	chr8:4645733-4663325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCPH1-7	chr8:4644854-4646106	NONHSAT124751

Extended variants
information (count: 623 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10503284	chr8:4645733-4645734	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370992341	chr8:4645736-4645737	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs564019411	chr8:4645738-4645739	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs191611074	chr8:4645743-4645744	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs542657255	chr8:4645745-4645746	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs555563592	chr8:4645746-4645747	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs373746896	chr8:4645751-4645752	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs368690238	chr8:4645770-4645771	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs183615511	chr8:4645787-4645788	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs4875118	chr8:4645804-4645805	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150685534	chr8:4645812-4645813	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs550356388	chr8:4645817-4645818	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs568814853	chr8:4645826-4645827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs536101611	chr8:4645832-4645833	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs376826182	chr8:4645839-4645840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs186532658	chr8:4645841-4645842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs71523645	chr8:4645861-4645862	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553474136	chr8:4645881-4645882	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs578032731	chr8:4645907-4645908	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs368267094	chr8:4645913-4645914	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs4875385	chr8:4645931-4645932	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557552402	chr8:4645935-4645936	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs576025733	chr8:4645936-4645937	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs543312612	chr8:4645942-4645943	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs190028350	chr8:4645948-4645949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs572828748	chr8:4645958-4645959	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs539836395	chr8:4645986-4645987	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs182320835	chr8:4645987-4645988	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs4875119	chr8:4645990-4645991	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552468142	chr8:4645993-4645994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs545125761	chr8:4645999-4646000	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs562314290	chr8:4646000-4646001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs141914840	chr8:4646005-4646006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs146333643	chr8:4646023-4646024	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs186715797	chr8:4646027-4646028	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs191170827	chr8:4646030-4646031	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs540296620	chr8:4646059-4646060	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs10106374	chr8:4646083-4646084	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs571725758	chr8:4646094-4646095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs558217023	chr8:4653220-4653221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6987623	chr8:4653225-4653226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190028231	chr8:4653232-4653233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182408398	chr8:4653257-4653258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149330956	chr8:4653260-4653261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568189130	chr8:4653267-4653268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541045175	chr8:4653277-4653278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552720913	chr8:4653283-4653284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186727994	chr8:4653286-4653287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191096859	chr8:4653291-4653292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563390406	chr8:4653297-4653298	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4653200-4654000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr8:4653200-4654400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:4653800-4654200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:4654200-4654600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:4658400-4670600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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