Variant report

Variant	esv1821842
Chromosome Location	chr3:80057453-80064447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 269 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17017470	chr3:80057453-80057454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558505051	chr3:80057459-80057460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56055599	chr3:80057483-80057484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541291477	chr3:80057607-80057608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561166025	chr3:80057615-80057616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9832496	chr3:80057624-80057625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543519313	chr3:80057643-80057644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563669739	chr3:80057673-80057674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532632305	chr3:80057707-80057708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577772560	chr3:80057709-80057710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9812811	chr3:80057733-80057734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566047802	chr3:80057741-80057742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191524656	chr3:80057764-80057765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527607851	chr3:80057770-80057771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115585502	chr3:80057840-80057841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368392784	chr3:80057857-80057858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567480482	chr3:80057876-80057877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536494729	chr3:80057888-80057889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556389748	chr3:80057910-80057911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569679632	chr3:80057960-80057961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200028135	chr3:80057976-80057977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200039923	chr3:80057977-80057978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543648206	chr3:80057981-80057982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9850639	chr3:80057988-80057989	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558285647	chr3:80057996-80057997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183969385	chr3:80058010-80058011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534988265	chr3:80058016-80058017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554801339	chr3:80058041-80058042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574782873	chr3:80058048-80058049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78983756	chr3:80058054-80058055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563881828	chr3:80058057-80058058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74766260	chr3:80058070-80058071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186743627	chr3:80058095-80058096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559492810	chr3:80058158-80058159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528456622	chr3:80058165-80058166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548595369	chr3:80058227-80058228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561216092	chr3:80058229-80058230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559052664	chr3:80058233-80058234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529994587	chr3:80058261-80058262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202020746	chr3:80058264-80058265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542849452	chr3:80058265-80058266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549745849	chr3:80058338-80058339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140801306	chr3:80058363-80058364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538376095	chr3:80058391-80058392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547561835	chr3:80058396-80058397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552202795	chr3:80058410-80058411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192246247	chr3:80058421-80058422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150116614	chr3:80058428-80058429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6548672	chr3:80058443-80058444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565220044	chr3:80058450-80058451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80055200-80066600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:80057600-80058200	Enhancers	Fetal Heart	heart
3	chr3:80058200-80059200	Weak transcription	Fetal Heart	heart
4	chr3:80059200-80060000	Enhancers	Fetal Heart	heart

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