Variant report

Variant	nsv966203
Chromosome Location	chr4:90687859-90693116
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	chr4:90684847..90686984-chr4:90687904..90690471,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-3	chr4:90691555-90691744	l_2686_chr4:90691554-90728114_testes
2	lnc-GPRIN3-4	chr4:90691234-90691476	l_2685_chr4:90678389-90691476_testes

Extended variants
information (count: 165 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7690873	chr4:90687862-90687863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs356192	chr4:90687927-90687928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541170849	chr4:90687964-90687965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372145354	chr4:90688077-90688078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59461736	chr4:90688078-90688079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs356191	chr4:90688120-90688121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548599479	chr4:90688191-90688192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569992986	chr4:90688196-90688197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547057931	chr4:90688200-90688201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552412003	chr4:90688224-90688225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146834644	chr4:90688345-90688346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534766280	chr4:90688413-90688414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552798935	chr4:90688440-90688441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540558916	chr4:90688455-90688456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565779714	chr4:90688536-90688537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539592115	chr4:90688557-90688558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10603167	chr4:90688577-90688578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556526129	chr4:90688664-90688665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114974810	chr4:90688685-90688686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539351677	chr4:90688721-90688722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558090646	chr4:90688729-90688730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190643427	chr4:90688733-90688734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572810228	chr4:90688747-90688748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148985054	chr4:90688758-90688759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183302288	chr4:90688759-90688760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368585933	chr4:90688778-90688779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577377250	chr4:90688780-90688781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372084916	chr4:90688824-90688825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs356190	chr4:90688915-90688916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541605051	chr4:90688916-90688917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559934322	chr4:90688933-90688934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530195649	chr4:90689041-90689042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542278570	chr4:90689071-90689072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563686744	chr4:90689072-90689073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530905933	chr4:90689125-90689126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142548606	chr4:90689130-90689131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570683652	chr4:90689232-90689233	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs528313406	chr4:90689244-90689245	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs150966864	chr4:90689256-90689257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs62306314	chr4:90689272-90689273	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567852127	chr4:90689315-90689316	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs140696473	chr4:90689320-90689321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs556612498	chr4:90689384-90689385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs568518476	chr4:90689472-90689473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs186992775	chr4:90689474-90689475	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs190231633	chr4:90689475-90689476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577463947	chr4:90689476-90689477	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs375144928	chr4:90689535-90689536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs145817588	chr4:90689554-90689555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183169193	chr4:90689656-90689657	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Parkinson disease	20733075	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90649400-90696400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:90663400-90691400	Weak transcription	Dnd41	blood
3	chr4:90675400-90696200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:90676200-90709200	Weak transcription	HUVEC	blood vessel
5	chr4:90683600-90689200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:90685200-90696400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:90686200-90688200	Enhancers	Brain Substantia Nigra	brain
8	chr4:90686800-90688000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:90687000-90688000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:90687200-90691200	Weak transcription	Brain Angular Gyrus	brain
11	chr4:90687200-90718400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:90687400-90688200	Enhancers	Fetal Lung	lung
13	chr4:90687400-90691000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:90687400-90697800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:90687600-90696200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:90687800-90692400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:90688000-90689200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:90688200-90688600	Weak transcription	Fetal Lung	lung
19	chr4:90688600-90688800	Enhancers	Fetal Lung	lung
20	chr4:90688800-90704800	Weak transcription	Fetal Lung	lung
21	chr4:90689200-90689600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:90689200-90690000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:90689400-90691000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:90689600-90690000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:90690000-90690600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:90690000-90695200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:90690600-90690800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:90690800-90691400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:90691000-90691200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:90691000-90691400	Enhancers	Brain Cingulate Gyrus	brain
31	chr4:90691000-90691400	Enhancers	Brain Substantia Nigra	brain
32	chr4:90691200-90691800	Enhancers	Brain Angular Gyrus	brain
33	chr4:90691200-90694800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:90691400-90692000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:90691400-90692400	Weak transcription	Brain Substantia Nigra	brain
36	chr4:90691400-90694200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:90691800-90704800	Weak transcription	Brain Angular Gyrus	brain
38	chr4:90692000-90692800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:90692400-90692600	Enhancers	Brain Anterior Caudate	brain
40	chr4:90692400-90692600	Enhancers	Brain Substantia Nigra	brain
41	chr4:90692400-90693000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:90692800-90696000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:90693000-90709400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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