Variant report

Variant	nsv969965
Chromosome Location	chr5:88685313-88688478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:88682123..88685115-chr5:88685986..88688180,3	K562	blood:
2	chr5:88687703..88689475-chr5:88693463..88695074,2	MCF-7	breast:
3	chr5:88685101..88686656-chr5:88688204..88690615,2	K562	blood:
4	chr5:88685101..88686656-chr5:88688204..88690615,2	K562	blood:
5	chr5:88682304..88683982-chr5:88687712..88689947,2	MCF-7	breast:
6	chr5:88674571..88676699-chr5:88688418..88689981,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561860153	chr5:88687027-88687028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566568523	chr5:88687041-88687042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557886989	chr5:88687049-88687050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577527847	chr5:88687071-88687072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533803302	chr5:88687072-88687073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116416607	chr5:88687093-88687094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368482357	chr5:88687136-88687137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573726819	chr5:88687137-88687138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542995650	chr5:88687140-88687141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374429261	chr5:88687147-88687148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562885113	chr5:88687187-88687188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372216353	chr5:88687258-88687259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182555363	chr5:88687271-88687272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147570674	chr5:88687277-88687278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528005441	chr5:88687303-88687304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533913711	chr5:88687316-88687317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548080722	chr5:88687333-88687334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186834223	chr5:88687369-88687370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34723705	chr5:88687443-88687444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192177425	chr5:88687468-88687469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367717948	chr5:88687490-88687491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17508283	chr5:88687514-88687515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568863412	chr5:88687529-88687530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371394193	chr5:88687539-88687540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570668130	chr5:88687564-88687565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537907202	chr5:88687570-88687571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551178778	chr5:88687581-88687582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571084125	chr5:88687610-88687611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533717722	chr5:88687626-88687627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566386432	chr5:88687682-88687683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74734756	chr5:88687688-88687689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150106391	chr5:88687696-88687697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536294316	chr5:88687771-88687772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556472078	chr5:88687790-88687791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138459359	chr5:88687815-88687816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184213411	chr5:88687846-88687847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190512781	chr5:88687853-88687854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572704392	chr5:88687855-88687856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541622635	chr5:88687869-88687870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561607956	chr5:88687911-88687912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530372132	chr5:88687912-88687913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542267938	chr5:88687923-88687924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1895450	chr5:88687931-88687932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs193229094	chr5:88687993-88687994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149286664	chr5:88687994-88687995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570996352	chr5:88688020-88688021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184547129	chr5:88688028-88688029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145496807	chr5:88688036-88688037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567449927	chr5:88688038-88688039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138109446	chr5:88688048-88688049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Colorectal cancer	16774939	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88687000-88692400	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links