Variant report

Variant	esv3438624
Chromosome Location	chr3:21912648-21917246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 156 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs183693058	chr3:21914222-21914223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531572185	chr3:21914230-21914231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578229557	chr3:21914263-21914264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200188632	chr3:21914265-21914266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117471558	chr3:21914298-21914299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200981778	chr3:21914312-21914313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560502681	chr3:21914322-21914323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188269761	chr3:21914348-21914349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549204204	chr3:21914422-21914423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149513235	chr3:21914435-21914436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193269864	chr3:21914441-21914442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550479389	chr3:21914468-21914469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568786235	chr3:21914470-21914471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539333781	chr3:21914475-21914476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551588276	chr3:21914478-21914479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144837130	chr3:21914488-21914489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545304453	chr3:21914508-21914509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533936065	chr3:21914516-21914517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183399252	chr3:21914524-21914525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138784141	chr3:21914539-21914540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187674136	chr3:21914573-21914574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568374454	chr3:21914575-21914576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78438499	chr3:21914580-21914581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545366601	chr3:21914581-21914582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554389217	chr3:21914584-21914585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572497425	chr3:21914589-21914590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543120186	chr3:21914600-21914601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561015506	chr3:21914638-21914639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531619443	chr3:21914643-21914644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12485261	chr3:21914692-21914693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77997761	chr3:21914697-21914698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533300286	chr3:21914721-21914722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551384162	chr3:21914729-21914730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191464161	chr3:21914742-21914743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1612644	chr3:21914748-21914749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73040554	chr3:21914755-21914756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143416741	chr3:21914756-21914757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567396064	chr3:21914762-21914763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535657975	chr3:21914793-21914794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141947971	chr3:21914794-21914795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556233377	chr3:21914850-21914851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571150754	chr3:21914852-21914853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1479980	chr3:21914880-21914881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554128107	chr3:21914952-21914953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146312842	chr3:21914971-21914972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140463319	chr3:21915027-21915028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148528827	chr3:21915042-21915043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141874006	chr3:21915048-21915049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558820743	chr3:21915054-21915055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576166099	chr3:21915057-21915058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21914200-21917200	Weak transcription	Fetal Lung	lung
2	chr3:21917200-21917400	Enhancers	Fetal Lung	lung

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