Variant report

Variant	esv3416563
Chromosome Location	chr3:22582524-22582884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570247631	chr3:22582532-22582533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537607060	chr3:22582534-22582535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191791539	chr3:22582540-22582541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577565508	chr3:22582544-22582545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541031412	chr3:22582559-22582560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs67301458	chr3:22582561-22582562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71048459	chr3:22582568-22582569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552684430	chr3:22582571-22582572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574524243	chr3:22582583-22582584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532104987	chr3:22582587-22582588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13074507	chr3:22582590-22582591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372561432	chr3:22582592-22582593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369314724	chr3:22582593-22582594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199969386	chr3:22582598-22582599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201117746	chr3:22582601-22582602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551866588	chr3:22582606-22582607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375511027	chr3:22582607-22582608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564045337	chr3:22582611-22582612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191026692	chr3:22582613-22582614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375421615	chr3:22582634-22582635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202172007	chr3:22582635-22582636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547815411	chr3:22582657-22582658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559464169	chr3:22582666-22582667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376196149	chr3:22582668-22582669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530246636	chr3:22582691-22582692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs68117088	chr3:22582702-22582703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200099342	chr3:22582703-22582704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548715275	chr3:22582721-22582722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570136886	chr3:22582723-22582724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557643283	chr3:22582725-22582726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374137758	chr3:22582736-22582737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13075109	chr3:22582737-22582738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571163194	chr3:22582751-22582752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528188746	chr3:22582756-22582757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535005201	chr3:22582762-22582763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562302207	chr3:22582823-22582824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201124774	chr3:22582834-22582835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552961487	chr3:22582870-22582871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11925008	chr3:22582874-22582875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22581000-22584800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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