Variant report

Variant	esv2602545
Chromosome Location	chr3:22907355-22911974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs554374407	chr3:22907447-22907448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10222555	chr3:22907464-22907465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373762325	chr3:22907490-22907491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190646752	chr3:22907503-22907504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376349274	chr3:22907517-22907518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567504245	chr3:22907521-22907522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566090637	chr3:22907528-22907529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182908704	chr3:22907536-22907537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79422740	chr3:22907543-22907544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576221262	chr3:22907574-22907575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149260523	chr3:22907582-22907583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75652461	chr3:22907583-22907584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556460646	chr3:22907595-22907596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576282535	chr3:22907652-22907653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541141979	chr3:22907671-22907672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559038982	chr3:22907691-22907692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3849565	chr3:22907716-22907717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542134110	chr3:22907728-22907729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563619571	chr3:22907823-22907824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557713465	chr3:22907838-22907839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187205070	chr3:22907845-22907846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552119878	chr3:22907876-22907877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192029320	chr3:22907891-22907892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111905034	chr3:22907897-22907898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143603786	chr3:22907947-22907948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34751185	chr3:22908067-22908068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34968985	chr3:22908108-22908109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184003360	chr3:22908205-22908206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200830655	chr3:22908216-22908217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565698889	chr3:22908245-22908246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147227532	chr3:22908250-22908251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6788881	chr3:22908285-22908286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570042790	chr3:22908319-22908320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537130601	chr3:22908320-22908321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558854802	chr3:22908391-22908392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577372476	chr3:22908412-22908413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534379121	chr3:22908417-22908418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74621272	chr3:22908433-22908434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12636543	chr3:22908449-22908450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574479176	chr3:22908487-22908488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140582029	chr3:22908491-22908492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6791796	chr3:22908492-22908493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575573414	chr3:22908525-22908526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187699160	chr3:22908539-22908540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78329574	chr3:22908549-22908550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528300364	chr3:22908602-22908603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542810979	chr3:22908681-22908682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77766385	chr3:22908722-22908723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77701368	chr3:22908741-22908742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192713640	chr3:22908780-22908781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Melanoma	20688739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22901800-22911600	Weak transcription	Fetal Lung	lung
2	chr3:22911600-22912000	Enhancers	Fetal Lung	lung
3	chr3:22911600-22912200	Enhancers	Fetal Heart	heart

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