Variant report

Variant	nsv967236
Chromosome Location	chr3:180003198-180007652
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	chr3:180007103..180009299-chr3:180013025..180015189,2	K562	blood:
2	chr3:180002525..180004570-chr3:180012107..180014551,2	MCF-7	breast:

Extended variants
information (count: 158 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs549072772	chr3:180003203-180003204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565643793	chr3:180003222-180003223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138133642	chr3:180003231-180003232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140804363	chr3:180003233-180003234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571101992	chr3:180003247-180003248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150116327	chr3:180003314-180003315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376888316	chr3:180003324-180003325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138552570	chr3:180003362-180003363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1198108	chr3:180003381-180003382	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555790105	chr3:180003406-180003407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532769357	chr3:180003470-180003471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542420809	chr3:180003475-180003476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370509561	chr3:180003481-180003482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572487225	chr3:180003487-180003488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541413115	chr3:180003551-180003552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35079004	chr3:180003569-180003570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112574032	chr3:180003588-180003589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533249539	chr3:180003592-180003593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543707988	chr3:180003683-180003684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563597895	chr3:180003698-180003699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527813367	chr3:180003738-180003739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115982759	chr3:180003772-180003773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549211446	chr3:180003804-180003805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565761670	chr3:180003814-180003815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535463786	chr3:180003865-180003866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528199996	chr3:180003885-180003886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541518637	chr3:180003891-180003892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551339603	chr3:180003911-180003912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73885477	chr3:180003927-180003928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536668828	chr3:180003931-180003932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192417394	chr3:180003945-180003946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367830621	chr3:180003965-180003966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36031570	chr3:180003988-180003989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535638301	chr3:180004032-180004033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7635290	chr3:180004047-180004048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572499574	chr3:180004048-180004049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534845953	chr3:180004129-180004130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146190431	chr3:180004151-180004152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9842405	chr3:180004183-180004184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543857365	chr3:180004200-180004201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535665972	chr3:180004208-180004209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114693714	chr3:180004218-180004219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371315839	chr3:180004290-180004291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559327831	chr3:180004291-180004292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137874004	chr3:180004298-180004299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13327114	chr3:180004312-180004313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549860383	chr3:180004316-180004317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569141810	chr3:180004376-180004377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530391528	chr3:180004411-180004412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550196596	chr3:180004436-180004437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180000200-180003600	Enhancers	NHDF-Ad	bronchial
2	chr3:180001600-180003200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr3:180001800-180003400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:180002400-180003600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:180002600-180003400	Enhancers	NHLF	lung
6	chr3:180002800-180013600	Weak transcription	HMEC	breast
7	chr3:180003400-180013600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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