Variant report

Variant	nsv460574
Chromosome Location	chr3:61040284-61054345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 656 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2365052	chr3:61040284-61040285	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560324701	chr3:61040302-61040303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578125301	chr3:61040347-61040348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60746884	chr3:61040359-61040360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563879368	chr3:61040360-61040361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12107986	chr3:61040391-61040392	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs386661544	chr3:61040476-61040477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201094261	chr3:61040477-61040478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536182515	chr3:61040513-61040514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12107589	chr3:61040525-61040526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566301729	chr3:61040529-61040530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540796072	chr3:61040534-61040535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539544988	chr3:61040547-61040548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72875937	chr3:61040585-61040586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576320193	chr3:61040600-61040601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537065062	chr3:61040630-61040631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556013871	chr3:61040632-61040633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370175506	chr3:61040643-61040644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560580033	chr3:61040647-61040648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574370127	chr3:61040663-61040664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541757156	chr3:61040668-61040669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139428813	chr3:61040671-61040672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10510858	chr3:61040705-61040706	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs202222332	chr3:61040745-61040746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145562388	chr3:61040761-61040762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373823433	chr3:61040780-61040781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545539047	chr3:61040787-61040788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11712250	chr3:61040789-61040790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199903178	chr3:61040796-61040797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531304288	chr3:61040798-61040799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377690488	chr3:61040799-61040800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149660952	chr3:61040810-61040811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186037578	chr3:61040811-61040812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10510859	chr3:61040860-61040861	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548113217	chr3:61040902-61040903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566097840	chr3:61041003-61041004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533584678	chr3:61041019-61041020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191208415	chr3:61041041-61041042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529360482	chr3:61041046-61041047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115035901	chr3:61041049-61041050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545875622	chr3:61041079-61041080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537177996	chr3:61041103-61041104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555327545	chr3:61041118-61041119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145484971	chr3:61041123-61041124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368301914	chr3:61041144-61041145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535358473	chr3:61041160-61041161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183291379	chr3:61041161-61041162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572112324	chr3:61041168-61041169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374896115	chr3:61041180-61041181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187621317	chr3:61041190-61041191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61027600-61040400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:61033600-61066600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:61039600-61040600	Enhancers	Pancreas	Pancrea
4	chr3:61040200-61040400	Enhancers	HepG2	liver
5	chr3:61040400-61040600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:61040400-61040800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:61040400-61041000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:61040400-61046000	Weak transcription	HepG2	liver
9	chr3:61040600-61042000	Weak transcription	Pancreas	Pancrea
10	chr3:61040800-61041800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:61042000-61042200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:61042000-61042200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:61042000-61042600	Enhancers	Pancreas	Pancrea
14	chr3:61042600-61043000	Weak transcription	Pancreas	Pancrea
15	chr3:61043000-61043600	Enhancers	Pancreas	Pancrea
16	chr3:61043600-61045400	Weak transcription	Pancreas	Pancrea
17	chr3:61043800-61044400	Enhancers	Fetal Kidney	kidney
18	chr3:61045400-61046400	Enhancers	Psoas Muscle	Psoas
19	chr3:61045400-61046600	Enhancers	Pancreas	Pancrea
20	chr3:61045400-61047000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:61046000-61046800	Enhancers	Fetal Lung	lung
22	chr3:61046000-61046800	Enhancers	NHEK	skin
23	chr3:61046000-61047000	Enhancers	HepG2	liver
24	chr3:61046200-61046400	Enhancers	Fetal Kidney	kidney
25	chr3:61046200-61046800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:61046200-61046800	Enhancers	Fetal Brain Male	brain
27	chr3:61046200-61047000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:61046400-61047000	Enhancers	Brain Cingulate Gyrus	brain
29	chr3:61046800-61049600	Weak transcription	Fetal Brain Male	brain
30	chr3:61047000-61050000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:61047000-61050000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:61049600-61049800	ZNF genes & repeats	Fetal Brain Male	brain
33	chr3:61050000-61051200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:61050000-61051400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:61051200-61060000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:61054200-61056200	Enhancers	Psoas Muscle	Psoas

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