Variant report

Variant	nsv969225
Chromosome Location	chr5:59519253-59524138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs182282335	chr5:59519312-59519313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533508703	chr5:59519323-59519324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553372384	chr5:59519409-59519410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567176693	chr5:59519417-59519418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536528660	chr5:59519424-59519425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549253388	chr5:59519445-59519446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187438889	chr5:59519515-59519516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544881750	chr5:59519543-59519544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375224766	chr5:59519544-59519545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192723754	chr5:59519704-59519705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541410037	chr5:59519753-59519754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146521336	chr5:59519780-59519781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530073709	chr5:59519786-59519787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544092397	chr5:59519801-59519802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183696504	chr5:59519806-59519807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563830184	chr5:59519809-59519810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532698403	chr5:59519813-59519814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552367978	chr5:59519856-59519857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115833185	chr5:59519867-59519868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112999073	chr5:59519868-59519869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547122492	chr5:59519916-59519917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370043186	chr5:59519925-59519926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140976033	chr5:59520038-59520039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535917746	chr5:59520043-59520044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550468193	chr5:59520047-59520048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560174589	chr5:59520074-59520075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556378456	chr5:59520079-59520080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374093207	chr5:59520114-59520115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150140503	chr5:59520135-59520136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538804778	chr5:59520256-59520257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558810226	chr5:59520264-59520265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117476781	chr5:59520292-59520293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541522625	chr5:59520303-59520304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554806386	chr5:59520311-59520312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574728839	chr5:59520385-59520386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543462079	chr5:59520427-59520428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7442640	chr5:59520445-59520446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs60487676	chr5:59520494-59520495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551360052	chr5:59520574-59520575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148860412	chr5:59520599-59520600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143445086	chr5:59520606-59520607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369963572	chr5:59520628-59520629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547083836	chr5:59520661-59520662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560825593	chr5:59520686-59520687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529653565	chr5:59520687-59520688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76829110	chr5:59520772-59520773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564458294	chr5:59520788-59520789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569906760	chr5:59520823-59520824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538913540	chr5:59520827-59520828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552534883	chr5:59520901-59520902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59506800-59528000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59516000-59519400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:59518800-59519600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:59518800-59520000	Enhancers	Hela-S3	cervix
5	chr5:59519400-59520000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:59520000-59525200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:59522400-59523600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:59523600-59524000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:59524000-59525800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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