Variant report

Variant	nsv10276
Chromosome Location	chr3:61139214-61142011
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529172549	chr3:61139285-61139286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547698689	chr3:61139453-61139454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565723036	chr3:61139457-61139458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533117950	chr3:61139479-61139480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563833892	chr3:61139483-61139484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551626543	chr3:61139520-61139521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569723293	chr3:61139546-61139547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140846939	chr3:61139572-61139573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555390090	chr3:61139638-61139639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7636370	chr3:61139645-61139646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534987266	chr3:61139646-61139647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553664039	chr3:61139666-61139667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371056406	chr3:61139709-61139710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578200104	chr3:61139725-61139726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149824241	chr3:61139727-61139728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7646749	chr3:61139748-61139749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575324869	chr3:61139771-61139772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542758347	chr3:61139790-61139791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560923363	chr3:61139804-61139805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561868556	chr3:61139832-61139833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528520413	chr3:61139833-61139834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540282353	chr3:61139850-61139851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115648582	chr3:61139900-61139901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188664977	chr3:61139921-61139922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145836758	chr3:61139928-61139929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375632685	chr3:61139935-61139936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75939878	chr3:61139943-61139944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542893400	chr3:61139950-61139951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567136625	chr3:61139961-61139962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534578454	chr3:61140016-61140017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552716977	chr3:61140052-61140053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181210966	chr3:61140074-61140075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148575984	chr3:61140088-61140089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147795585	chr3:61140101-61140102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374231056	chr3:61140102-61140103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150922050	chr3:61140151-61140152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368123886	chr3:61140152-61140153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78142518	chr3:61140158-61140159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538987077	chr3:61140168-61140169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28367502	chr3:61140176-61140177	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575459637	chr3:61140185-61140186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186355137	chr3:61140200-61140201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529202534	chr3:61140205-61140206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555011029	chr3:61140238-61140239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189252134	chr3:61140246-61140247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540571977	chr3:61140271-61140272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10866044	chr3:61140285-61140286	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142977892	chr3:61140286-61140287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151136133	chr3:61140294-61140295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116510714	chr3:61140320-61140321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	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
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61138400-61143800	Weak transcription	Primary T cells from cord blood	blood
2	chr3:61138800-61140600	Weak transcription	Right Atrium	heart
3	chr3:61139400-61141600	Enhancers	Brain Germinal Matrix	brain
4	chr3:61139800-61140600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:61139800-61142200	Enhancers	Ovary	ovary
6	chr3:61140000-61140200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:61140200-61140400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:61140200-61140800	Enhancers	Fetal Kidney	kidney
9	chr3:61140200-61140800	Enhancers	Left Ventricle	heart
10	chr3:61140200-61141000	Enhancers	Brain Cingulate Gyrus	brain
11	chr3:61140200-61141000	Enhancers	Pancreas	Pancrea
12	chr3:61140200-61141200	Enhancers	Liver	Liver
13	chr3:61140200-61141200	Enhancers	Fetal Heart	heart
14	chr3:61140400-61140600	Enhancers	Brain Hippocampus Middle	brain
15	chr3:61140400-61140800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:61140400-61140800	Enhancers	Fetal Brain Male	brain
17	chr3:61140400-61141600	Enhancers	Fetal Brain Female	brain
18	chr3:61140400-61146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:61140600-61140800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:61140600-61140800	Enhancers	Right Atrium	heart
21	chr3:61140600-61141200	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:61140600-61142000	Enhancers	Fetal Lung	lung
23	chr3:61140800-61141600	Weak transcription	Right Atrium	heart
24	chr3:61140800-61142200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:61140800-61144400	Weak transcription	Fetal Kidney	kidney
26	chr3:61141000-61141400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr3:61141000-61141400	Weak transcription	Pancreas	Pancrea
28	chr3:61141200-61141400	Flanking Active TSS	Liver	Liver
29	chr3:61141200-61141400	Flanking Active TSS	Fetal Heart	heart
30	chr3:61141200-61141800	Enhancers	Brain Hippocampus Middle	brain
31	chr3:61141400-61141600	Enhancers	Liver	Liver
32	chr3:61141400-61141600	Enhancers	Fetal Heart	heart
33	chr3:61141400-61141800	Enhancers	Pancreas	Pancrea
34	chr3:61141400-61142000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr3:61141400-61142200	Enhancers	Brain Cingulate Gyrus	brain
36	chr3:61141600-61141800	Flanking Active TSS	Fetal Heart	heart
37	chr3:61141600-61141800	Enhancers	Psoas Muscle	Psoas
38	chr3:61141600-61142000	Flanking Active TSS	Liver	Liver
39	chr3:61141600-61142000	Enhancers	Brain Angular Gyrus	brain
40	chr3:61141600-61142200	Enhancers	Right Atrium	heart
41	chr3:61141800-61142200	Enhancers	Fetal Heart	heart
42	chr3:61141800-61150800	Weak transcription	Brain Hippocampus Middle	brain
43	chr3:61141800-61152200	Weak transcription	Psoas Muscle	Psoas
44	chr3:61141800-61158400	Weak transcription	Pancreas	Pancrea
45	chr3:61142000-61142600	Enhancers	Liver	Liver
46	chr3:61142000-61143000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr3:61142000-61145600	Weak transcription	Fetal Lung	lung
48	chr3:61142000-61150400	Weak transcription	Brain Angular Gyrus	brain

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