Variant report

Variant	esv1798607
Chromosome Location	chr3:60152188-60161647
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	chr3:59988215..59988997-chr3:60152321..60153153,2	MCF-7	breast:

Extended variants
information (count: 483 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4411839	chr3:60152188-60152189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540407379	chr3:60152223-60152224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142250276	chr3:60152238-60152239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150798343	chr3:60152281-60152282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555722472	chr3:60152294-60152295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189797606	chr3:60152308-60152309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76127156	chr3:60152331-60152332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368355858	chr3:60152335-60152336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573996750	chr3:60152384-60152385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548497730	chr3:60152399-60152400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541419055	chr3:60152475-60152476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144105009	chr3:60152487-60152488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559127181	chr3:60152536-60152537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570909245	chr3:60152558-60152559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538747092	chr3:60152564-60152565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17062413	chr3:60152583-60152584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146481585	chr3:60152585-60152586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17062415	chr3:60152612-60152613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563172449	chr3:60152638-60152639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554602491	chr3:60152650-60152651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573108145	chr3:60152708-60152709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368042899	chr3:60152719-60152720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181048784	chr3:60152753-60152754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72886317	chr3:60152758-60152759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs140933921	chr3:60152759-60152760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530820464	chr3:60152771-60152772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185986828	chr3:60152774-60152775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374234149	chr3:60152813-60152814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149691842	chr3:60152814-60152815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78031970	chr3:60152824-60152825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191016113	chr3:60152849-60152850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77972683	chr3:60152856-60152857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527989870	chr3:60152889-60152890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560938862	chr3:60152891-60152892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552552142	chr3:60152934-60152935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570102443	chr3:60152974-60152975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538438728	chr3:60152988-60152989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528031511	chr3:60153005-60153006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557122349	chr3:60153020-60153021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568958871	chr3:60153032-60153033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536319435	chr3:60153064-60153065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554574753	chr3:60153068-60153069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116142681	chr3:60153083-60153084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534105618	chr3:60153144-60153145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558566884	chr3:60153146-60153147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576653382	chr3:60153158-60153159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74817446	chr3:60153175-60153176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543984898	chr3:60153179-60153180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371260241	chr3:60153286-60153287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562305985	chr3:60153288-60153289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Cancer	18162546	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
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Glioblastoma multiforme	21569311	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60139600-60161600	Weak transcription	Aorta	Aorta
2	chr3:60150000-60152600	Weak transcription	Fetal Heart	heart
3	chr3:60150200-60155400	Weak transcription	Fetal Thymus	thymus
4	chr3:60152600-60153600	Enhancers	Fetal Heart	heart
5	chr3:60153600-60154200	Weak transcription	Fetal Heart	heart
6	chr3:60154200-60155600	Enhancers	Fetal Heart	heart
7	chr3:60154600-60155200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:60155400-60155600	Enhancers	Fetal Thymus	thymus
9	chr3:60155600-60156200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links