Variant report

Variant	nsv980049
Chromosome Location	chr3:17551786-17555769
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	chr3:17552302..17553888-chr3:17553996..17555842,2	K562	blood:
2	chr3:17552302..17553888-chr3:17553996..17555842,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575291307	chr3:17551842-17551843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544357651	chr3:17551856-17551857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569767892	chr3:17551898-17551899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116139415	chr3:17551908-17551909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555177343	chr3:17551914-17551915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574904585	chr3:17551984-17551985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564186963	chr3:17552044-17552045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534419374	chr3:17552046-17552047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376768846	chr3:17552056-17552057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181083269	chr3:17552078-17552079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554128218	chr3:17552082-17552083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577468314	chr3:17552118-17552119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533018481	chr3:17552144-17552145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545788748	chr3:17552167-17552168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562583034	chr3:17552201-17552202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112818718	chr3:17552281-17552282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149967469	chr3:17552288-17552289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541948935	chr3:17552329-17552330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562233552	chr3:17552410-17552411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185122959	chr3:17552467-17552468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547580493	chr3:17552502-17552503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11927232	chr3:17552505-17552506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116701030	chr3:17552516-17552517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529450966	chr3:17552524-17552525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549796202	chr3:17552551-17552552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569694771	chr3:17552606-17552607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144997464	chr3:17552660-17552661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149072799	chr3:17552670-17552671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370600236	chr3:17552730-17552731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560255274	chr3:17552747-17552748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145993382	chr3:17552802-17552803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138708667	chr3:17552836-17552837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554390993	chr3:17552956-17552957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141259165	chr3:17553078-17553079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539778723	chr3:17553095-17553096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9876715	chr3:17553096-17553097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576000322	chr3:17553135-17553136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541838597	chr3:17553138-17553139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555539697	chr3:17553235-17553236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572507825	chr3:17553277-17553278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540866622	chr3:17553293-17553294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564348930	chr3:17553396-17553397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371112286	chr3:17553397-17553398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533251568	chr3:17553445-17553446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190840958	chr3:17553457-17553458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563587601	chr3:17553496-17553497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528851314	chr3:17553508-17553509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548865824	chr3:17553559-17553560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575316486	chr3:17553571-17553572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374594883	chr3:17553573-17553574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	21364760	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17523000-17570000	Weak transcription	Spleen	Spleen
2	chr3:17523200-17556200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:17530600-17587600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:17534000-17559800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:17534200-17561600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:17535600-17552000	Weak transcription	Primary T cells from cord blood	blood
7	chr3:17536200-17555600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:17536400-17559800	Weak transcription	Adipose Nuclei	Adipose
9	chr3:17536400-17562600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:17536400-17568800	Weak transcription	GM12878-XiMat	blood
11	chr3:17536400-17574800	Weak transcription	Dnd41	blood
12	chr3:17536600-17559600	Weak transcription	Fetal Stomach	stomach
13	chr3:17536600-17560400	Weak transcription	Fetal Intestine Large	intestine
14	chr3:17536600-17561600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:17536600-17562200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:17536600-17588000	Weak transcription	Left Ventricle	heart
17	chr3:17537200-17560000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:17547000-17557400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:17547800-17552200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:17548600-17554600	Weak transcription	Pancreas	Pancrea
21	chr3:17548600-17579200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:17548800-17564600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr3:17549400-17561800	Weak transcription	Small Intestine	intestine
24	chr3:17549800-17554000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr3:17550000-17560400	Weak transcription	Esophagus	oesophagus
26	chr3:17550000-17560600	Weak transcription	Fetal Lung	lung
27	chr3:17550000-17583800	Weak transcription	Primary B cells from cord blood	blood
28	chr3:17550200-17560000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr3:17550200-17574800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr3:17551200-17560000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:17551600-17553200	Enhancers	A549	lung
32	chr3:17552200-17552400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:17553200-17554200	Weak transcription	A549	lung
34	chr3:17554200-17556600	Enhancers	A549	lung
35	chr3:17554600-17554800	Enhancers	Pancreas	Pancrea
36	chr3:17554800-17559800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links