Variant report

Variant	nsv518387
Chromosome Location	chr4:10546359-10547343
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	chr4:10119738..10123155-chr4:10543992..10547634,3	K562	blood:
2	chr4:10447047..10450143-chr4:10544780..10547664,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11939512	chr4:10546359-10546360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139413282	chr4:10546360-10546361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs55928183	chr4:10546380-10546381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550385392	chr4:10546388-10546389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571828810	chr4:10546436-10546437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539237961	chr4:10546451-10546452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371357760	chr4:10546464-10546465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572666109	chr4:10546483-10546484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116292027	chr4:10546520-10546521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73810309	chr4:10546529-10546530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149972897	chr4:10546545-10546546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543552869	chr4:10546561-10546562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377406333	chr4:10546563-10546564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370151114	chr4:10546583-10546584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78444515	chr4:10546629-10546630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372779481	chr4:10546664-10546665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147671613	chr4:10546669-10546670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377000627	chr4:10546720-10546721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540850666	chr4:10546766-10546767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12502484	chr4:10546778-10546779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs140787452	chr4:10546852-10546853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548161581	chr4:10546856-10546857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182428225	chr4:10546871-10546872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144700099	chr4:10546890-10546891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552254649	chr4:10546917-10546918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147914010	chr4:10546926-10546927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539200874	chr4:10546965-10546966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534937537	chr4:10546997-10546998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141329986	chr4:10547010-10547011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563607888	chr4:10547011-10547012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201017115	chr4:10547022-10547023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113881710	chr4:10547039-10547040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536590795	chr4:10547040-10547041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554939906	chr4:10547090-10547091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530842499	chr4:10547101-10547102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552122944	chr4:10547106-10547107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576320245	chr4:10547144-10547145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537054615	chr4:10547147-10547148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558600230	chr4:10547152-10547153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576942085	chr4:10547160-10547161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186862593	chr4:10547206-10547207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540803576	chr4:10547227-10547228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192219110	chr4:10547294-10547295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150998675	chr4:10547315-10547316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541715683	chr4:10547321-10547322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77352455	chr4:10547340-10547341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13112750	chr4:10547343-10547344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10538400-10578200	Weak transcription	GM12878-XiMat	blood
2	chr4:10544800-10550400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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