Variant report

Variant	nsv508259
Chromosome Location	chr3:163533756-163553142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163541049..163542770-chr3:163547839..163549740,2	K562	blood:
2	chr3:163541049..163542770-chr3:163547839..163549740,2	K562	blood:
3	chr3:163539597..163540281-chr6:10405070..10405779,2	Hela-S3	cervix:

Extended variants
information (count: 308 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76568684	chr3:163534423-163534424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551422061	chr3:163534424-163534425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142474599	chr3:163534452-163534453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184982595	chr3:163534529-163534530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576644335	chr3:163534532-163534533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146563180	chr3:163534534-163534535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553007398	chr3:163534560-163534561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189444960	chr3:163534567-163534568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76343175	chr3:163534654-163534655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62293628	chr3:163534662-163534663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10470489	chr3:163534719-163534720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544331296	chr3:163534744-163534745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550955282	chr3:163534778-163534779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181227067	chr3:163534795-163534796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184424989	chr3:163534796-163534797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7617253	chr3:163534797-163534798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540212109	chr3:163534866-163534867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560651746	chr3:163534926-163534927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529590533	chr3:163534928-163534929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139196200	chr3:163534962-163534963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570856323	chr3:163534966-163534967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115350815	chr3:163534976-163534977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539427348	chr3:163535026-163535027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574639630	chr3:163535085-163535086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551481938	chr3:163535145-163535146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375192551	chr3:163535150-163535151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75424532	chr3:163535151-163535152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143234959	chr3:163535152-163535153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566699799	chr3:163535156-163535157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150473464	chr3:163535175-163535176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11708234	chr3:163539410-163539411	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560819250	chr3:163539420-163539421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529852566	chr3:163539465-163539466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548487458	chr3:163539466-163539467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76646616	chr3:163539483-163539484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532101215	chr3:163539521-163539522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552211058	chr3:163539559-163539560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565544861	chr3:163539586-163539587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528060902	chr3:163539635-163539636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559399004	chr3:163539644-163539645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548915172	chr3:163539665-163539666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527683185	chr3:163539698-163539699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10936366	chr3:163539705-163539706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575776898	chr3:163539720-163539721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570964683	chr3:163539734-163539735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184775040	chr3:163539741-163539742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551626667	chr3:163539784-163539785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190246600	chr3:163539812-163539813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539558848	chr3:163539859-163539860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553384497	chr3:163539872-163539873	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	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
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163534400-163535200	Enhancers	Liver	Liver
2	chr3:163539400-163540000	Enhancers	Fetal Heart	heart
3	chr3:163542800-163543200	Active TSS	Hela-S3	cervix
4	chr3:163543200-163546600	Weak transcription	Hela-S3	cervix
5	chr3:163546600-163547000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:163546600-163548000	Active TSS	Hela-S3	cervix
7	chr3:163546800-163547600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr3:163547200-163547400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:163548000-163550000	Weak transcription	Hela-S3	cervix
10	chr3:163550000-163550200	Enhancers	Hela-S3	cervix

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