Variant report

Variant	nsv963331
Chromosome Location	chr3:75382522-75385984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs569569318	chr3:75382543-75382544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533595784	chr3:75382559-75382560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551668631	chr3:75382604-75382605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113196417	chr3:75382668-75382669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185955639	chr3:75382697-75382698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546486298	chr3:75382754-75382755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374635298	chr3:75382812-75382813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553840452	chr3:75382824-75382825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537435988	chr3:75382838-75382839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35049131	chr3:75382862-75382863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112727724	chr3:75382886-75382887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78511966	chr3:75382900-75382901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78149777	chr3:75382901-75382902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368368761	chr3:75382905-75382906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573982008	chr3:75382909-75382910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577492085	chr3:75382914-75382915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545221711	chr3:75382946-75382947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553699435	chr3:75382976-75382977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572178217	chr3:75382992-75382993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540372940	chr3:75383005-75383006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191114916	chr3:75383029-75383030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561582594	chr3:75383093-75383094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544597546	chr3:75383124-75383125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560390274	chr3:75383125-75383126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529045790	chr3:75383177-75383178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182001570	chr3:75383181-75383182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552024636	chr3:75383194-75383195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566957713	chr3:75383235-75383236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548686233	chr3:75383251-75383252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548843117	chr3:75383273-75383274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147947888	chr3:75383316-75383317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186382326	chr3:75383410-75383411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191179422	chr3:75383414-75383415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182551583	chr3:75383459-75383460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141869792	chr3:75383467-75383468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1997539	chr3:75383477-75383478	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs537465427	chr3:75383502-75383503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386662436	chr3:75383512-75383513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9654026	chr3:75383513-75383514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77597881	chr3:75383517-75383518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574166843	chr3:75383519-75383520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534658103	chr3:75383532-75383533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141888747	chr3:75383570-75383571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188313201	chr3:75383645-75383646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574990945	chr3:75383652-75383653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577924278	chr3:75383678-75383679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9829842	chr3:75383683-75383684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560826761	chr3:75383700-75383701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191054105	chr3:75383742-75383743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182968288	chr3:75383788-75383789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75376000-75382800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:75380400-75382600	Enhancers	Spleen	Spleen
3	chr3:75380600-75382800	Enhancers	Colon Smooth Muscle	Colon
4	chr3:75381000-75382600	Enhancers	Fetal Stomach	stomach
5	chr3:75381000-75382600	Enhancers	NHLF	lung
6	chr3:75381200-75383200	Enhancers	Fetal Muscle Trunk	muscle
7	chr3:75381200-75383600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:75381400-75382600	Enhancers	Fetal Lung	lung
9	chr3:75381400-75382800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:75381400-75382800	Enhancers	Fetal Muscle Leg	muscle
11	chr3:75381800-75382600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:75381800-75382600	Enhancers	Osteobl	bone
13	chr3:75381800-75389800	Weak transcription	Right Atrium	heart
14	chr3:75382000-75382800	Enhancers	Ovary	ovary
15	chr3:75382000-75383200	Weak transcription	Small Intestine	intestine
16	chr3:75382200-75382600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:75382400-75382600	Enhancers	Gastric	stomach
18	chr3:75382400-75382600	Enhancers	Pancreas	Pancrea
19	chr3:75382400-75382600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:75382600-75382800	Weak transcription	Pancreas	Pancrea
21	chr3:75382600-75389800	Weak transcription	Spleen	Spleen
22	chr3:75382800-75385800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:75383200-75383400	Enhancers	Small Intestine	intestine
24	chr3:75385800-75387200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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