Variant report

Variant	esv3388647
Chromosome Location	chr3:68174762-68179060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs539517953	chr3:68174784-68174785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556352820	chr3:68174792-68174793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576593081	chr3:68174803-68174804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114050559	chr3:68174821-68174822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77992358	chr3:68174835-68174836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144848708	chr3:68174878-68174879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115924159	chr3:68174879-68174880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375386879	chr3:68174895-68174896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577837105	chr3:68174896-68174897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75735909	chr3:68174902-68174903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538378879	chr3:68174932-68174933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554665305	chr3:68174982-68174983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563384094	chr3:68175016-68175017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9820035	chr3:68175083-68175084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549149644	chr3:68175092-68175093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559394645	chr3:68175103-68175104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528339319	chr3:68175108-68175109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534192519	chr3:68175149-68175150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547407537	chr3:68175151-68175152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570478120	chr3:68175204-68175205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539431753	chr3:68175212-68175213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549890650	chr3:68175222-68175223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551389377	chr3:68175223-68175224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535710972	chr3:68175292-68175293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191136389	chr3:68175345-68175346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577631773	chr3:68175392-68175393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148575928	chr3:68175465-68175466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535309219	chr3:68175471-68175472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183641087	chr3:68175492-68175493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571962660	chr3:68175525-68175526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76128453	chr3:68175673-68175674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189137409	chr3:68175675-68175676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563288992	chr3:68175677-68175678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182321419	chr3:68175684-68175685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11709861	chr3:68175692-68175693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547810696	chr3:68175693-68175694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144405172	chr3:68175840-68175841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528383698	chr3:68175903-68175904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146122964	chr3:68175942-68175943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564815026	chr3:68175953-68175954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575240102	chr3:68175976-68175977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550139954	chr3:68175979-68175980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570062709	chr3:68176014-68176015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200435199	chr3:68176065-68176066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565010047	chr3:68176119-68176120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566231942	chr3:68176165-68176166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535217271	chr3:68176190-68176191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558519781	chr3:68176271-68176272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571969564	chr3:68176348-68176349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139245297	chr3:68176396-68176397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68171600-68176600	Weak transcription	Pancreas	Pancrea
2	chr3:68174400-68184200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:68174600-68174800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:68176600-68176800	Enhancers	Pancreas	Pancrea
5	chr3:68176800-68177200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:68176800-68177200	ZNF genes & repeats	Gastric	stomach
7	chr3:68176800-68177200	ZNF genes & repeats	Pancreas	Pancrea
8	chr3:68177800-68178600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr3:68178000-68178400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:68178000-68178600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:68178000-68178600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:68178200-68178400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:68178200-68178600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:68178600-68184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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