Variant report

Variant	esv3402348
Chromosome Location	chr3:20918798-20920796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:20920030..20922787-chr3:20928844..20930529,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62236045	chr3:20919615-20919616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563557788	chr3:20919635-20919636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575287530	chr3:20919636-20919637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545903635	chr3:20919653-20919654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7639421	chr3:20919667-20919668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532222789	chr3:20919695-20919696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182788035	chr3:20919718-20919719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559632817	chr3:20919727-20919728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529959300	chr3:20919737-20919738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533638536	chr3:20919742-20919743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188725713	chr3:20919789-20919790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569550369	chr3:20919893-20919894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537099777	chr3:20919896-20919897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4549291	chr3:20919920-20919921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534467146	chr3:20919929-20919930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535269353	chr3:20919941-20919942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554520070	chr3:20919944-20919945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575051720	chr3:20919953-20919954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535780248	chr3:20919966-20919967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557282698	chr3:20919978-20919979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193056619	chr3:20920000-20920001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573749169	chr3:20920024-20920025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567044385	chr3:20920028-20920029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545891348	chr3:20920070-20920071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35637371	chr3:20920073-20920074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554690423	chr3:20920086-20920087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73819207	chr3:20920133-20920134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs144307757	chr3:20920199-20920200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559306633	chr3:20920222-20920223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116643719	chr3:20920234-20920235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529950723	chr3:20920327-20920328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541764795	chr3:20920366-20920367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563262289	chr3:20920376-20920377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536639090	chr3:20920393-20920394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73185085	chr3:20920399-20920400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115565629	chr3:20920403-20920404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35773535	chr3:20920423-20920424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570530384	chr3:20920425-20920426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73819208	chr3:20920454-20920455	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs145544048	chr3:20920463-20920464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547127676	chr3:20920483-20920484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112722972	chr3:20920537-20920538	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20919600-20920600	Enhancers	Fetal Kidney	kidney

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