Variant report

Variant	nsv1007783
Chromosome Location	chr4:60029837-60065084
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	chr4:60043552..60045132-chr4:60047786..60049460,2	K562	blood:
2	chr4:60043552..60045132-chr4:60047786..60049460,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LPHN3-7	chr4:60041591-60041864	XLOC_003552

Variant related genes	Relation type
TTC30A	miRNA target sites

Extended variants
information (count: 284 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10594293	chr4:60040423-60040424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575474385	chr4:60040426-60040427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200604527	chr4:60040427-60040428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559071424	chr4:60040433-60040434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577212967	chr4:60040480-60040481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371113411	chr4:60040489-60040490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560005439	chr4:60040498-60040499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574986574	chr4:60040513-60040514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200799978	chr4:60040516-60040517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs5858546	chr4:60040517-60040518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs398063588	chr4:60040519-60040520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199514140	chr4:60040520-60040521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185064928	chr4:60040545-60040546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542431091	chr4:60040550-60040551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4992785	chr4:60040594-60040595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530996246	chr4:60040602-60040603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11732027	chr4:60040640-60040641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs202148700	chr4:60040649-60040650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564637004	chr4:60040651-60040652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4992786	chr4:60040672-60040673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs547029085	chr4:60040682-60040683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4992787	chr4:60040702-60040703	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4992788	chr4:60040725-60040726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548488305	chr4:60040736-60040737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4992789	chr4:60040740-60040741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537238472	chr4:60040747-60040748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559132681	chr4:60040829-60040830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189494873	chr4:60040863-60040864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4992790	chr4:60040866-60040867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs553064569	chr4:60040897-60040898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575093414	chr4:60040898-60040899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563188283	chr4:60040909-60040910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542153272	chr4:60040915-60040916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6819424	chr4:60040916-60040917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs112284921	chr4:60040926-60040927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6854390	chr4:60040989-60040990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564993700	chr4:60041049-60041050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528348820	chr4:60041059-60041060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114730317	chr4:60041067-60041068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539093546	chr4:60041070-60041071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541033584	chr4:60041081-60041082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546455564	chr4:60041120-60041121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200257963	chr4:60041130-60041131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559119786	chr4:60041143-60041144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529669865	chr4:60041168-60041169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548548810	chr4:60041169-60041170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140365294	chr4:60041192-60041193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374559264	chr4:60041212-60041213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530736180	chr4:60041231-60041232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536973346	chr4:60041232-60041233	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60040400-60042000	Enhancers	Fetal Heart	heart
2	chr4:60060400-60062400	Enhancers	Fetal Heart	heart
3	chr4:60061800-60062200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr4:60062400-60065600	Weak transcription	Fetal Heart	heart

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