Variant report

Variant	esv3337896
Chromosome Location	chr3:21537448-21538646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544929597	chr3:21537535-21537536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187250181	chr3:21537545-21537546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541918819	chr3:21537628-21537629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560038199	chr3:21537643-21537644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527451422	chr3:21537664-21537665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548750573	chr3:21537694-21537695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550652305	chr3:21537744-21537745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552692241	chr3:21537745-21537746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560776725	chr3:21537757-21537758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531303452	chr3:21537789-21537790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200153090	chr3:21537860-21537861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112166052	chr3:21537861-21537862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200865309	chr3:21537865-21537866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373693956	chr3:21537898-21537899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9756803	chr3:21537925-21537926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560263090	chr3:21537926-21537927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190094932	chr3:21537945-21537946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9759184	chr3:21537955-21537956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201795782	chr3:21537963-21537964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200256101	chr3:21537964-21537965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201044674	chr3:21537965-21537966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201434275	chr3:21537967-21537968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142860913	chr3:21537968-21537969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9758089	chr3:21537969-21537970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398105666	chr3:21537974-21537975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112918176	chr3:21537975-21537976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201604229	chr3:21537979-21537980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570706326	chr3:21537998-21537999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9758091	chr3:21538003-21538004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9758092	chr3:21538005-21538006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566308606	chr3:21538008-21538009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202162482	chr3:21538012-21538013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199524552	chr3:21538025-21538026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201467420	chr3:21538027-21538028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6782941	chr3:21538039-21538040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9758340	chr3:21538041-21538042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199878493	chr3:21538047-21538048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143429178	chr3:21538067-21538068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200591636	chr3:21538068-21538069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6782952	chr3:21538075-21538076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78179938	chr3:21538077-21538078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183058664	chr3:21538096-21538097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138764726	chr3:21538120-21538121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538054771	chr3:21538126-21538127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576620919	chr3:21538135-21538136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557351531	chr3:21538185-21538186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188466949	chr3:21538186-21538187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192892645	chr3:21538208-21538209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577141668	chr3:21538240-21538241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541431790	chr3:21538266-21538267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21515800-21563000	Weak transcription	Fetal Stomach	stomach
2	chr3:21519800-21549000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:21526200-21559000	Weak transcription	Aorta	Aorta
4	chr3:21535000-21544400	Weak transcription	Fetal Lung	lung
5	chr3:21537600-21551400	Weak transcription	Fetal Muscle Leg	muscle

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