Variant report

Variant	esv2645094
Chromosome Location	chr3:55971596-55973175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568686555	chr3:55971611-55971612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150430032	chr3:55971618-55971619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186476181	chr3:55971621-55971622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556370141	chr3:55971654-55971655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369148944	chr3:55971677-55971678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553071324	chr3:55971763-55971764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375449248	chr3:55971814-55971815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572881804	chr3:55971833-55971834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191354848	chr3:55971843-55971844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561917219	chr3:55971852-55971853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575489881	chr3:55971875-55971876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114565662	chr3:55971920-55971921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372644887	chr3:55971949-55971950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563344457	chr3:55972030-55972031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532343356	chr3:55972067-55972068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138178057	chr3:55972083-55972084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182823008	chr3:55972118-55972119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528562123	chr3:55972139-55972140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530550438	chr3:55972145-55972146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548543716	chr3:55972167-55972168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141208142	chr3:55972223-55972224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537349901	chr3:55972377-55972378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551271103	chr3:55972378-55972379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535607343	chr3:55972379-55972380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370311410	chr3:55972391-55972392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145025802	chr3:55972399-55972400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539475606	chr3:55972418-55972419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186171668	chr3:55972472-55972473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572899171	chr3:55972533-55972534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554975178	chr3:55972541-55972542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190444659	chr3:55972550-55972551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138746149	chr3:55972555-55972556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544121399	chr3:55972657-55972658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115971112	chr3:55972660-55972661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533950365	chr3:55972669-55972670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555618648	chr3:55972683-55972684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148039127	chr3:55972685-55972686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559316262	chr3:55972696-55972697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376503756	chr3:55972720-55972721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567541642	chr3:55972772-55972773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528615763	chr3:55972790-55972791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141662309	chr3:55972797-55972798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150534362	chr3:55972825-55972826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116349498	chr3:55972841-55972842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183412588	chr3:55972901-55972902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538168236	chr3:55972919-55972920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571191786	chr3:55972921-55972922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201923219	chr3:55972971-55972972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12107629	chr3:55972977-55972978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546660491	chr3:55972978-55972979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Myofibroblastic sarcoma	19369631	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	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
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:55969600-55991600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:55970800-55972200	Enhancers	Stomach Mucosa	stomach
3	chr3:55971800-55972200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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