Variant report

Variant	nsv980123
Chromosome Location	chr4:18956364-18957643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
2	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
3	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542658249	chr4:18956414-18956415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567434248	chr4:18956424-18956425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114327205	chr4:18956434-18956435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553425200	chr4:18956506-18956507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554473980	chr4:18956564-18956565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200393115	chr4:18956568-18956569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545525441	chr4:18956597-18956598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114637578	chr4:18956615-18956616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190461696	chr4:18956647-18956648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575740550	chr4:18956654-18956655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543281307	chr4:18956697-18956698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183213973	chr4:18956709-18956710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558080328	chr4:18956727-18956728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528674682	chr4:18956746-18956747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540430866	chr4:18956765-18956766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188067883	chr4:18956812-18956813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142057037	chr4:18956853-18956854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555456698	chr4:18956924-18956925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146667019	chr4:18956941-18956942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10213559	chr4:18956960-18956961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551076275	chr4:18957000-18957001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192348696	chr4:18957033-18957034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372062328	chr4:18957034-18957035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530451364	chr4:18957059-18957060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549258083	chr4:18957086-18957087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567491801	chr4:18957092-18957093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369464519	chr4:18957094-18957095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534928714	chr4:18957121-18957122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552847700	chr4:18957149-18957150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571491668	chr4:18957162-18957163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539103472	chr4:18957163-18957164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547796864	chr4:18957200-18957201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373259813	chr4:18957209-18957210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557516230	chr4:18957210-18957211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13109789	chr4:18957245-18957246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs182663952	chr4:18957325-18957326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188856135	chr4:18957345-18957346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533730751	chr4:18957382-18957383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573410421	chr4:18957391-18957392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18955800-18959200	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links