Variant report

Variant	esv3322148
Chromosome Location	chr4:21016504-21018152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568909995	chr4:21016533-21016534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147035041	chr4:21016535-21016536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186733509	chr4:21016538-21016539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575506854	chr4:21016565-21016566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138322297	chr4:21016588-21016589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61710404	chr4:21016628-21016629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs377024140	chr4:21016672-21016673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190793008	chr4:21016698-21016699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540266939	chr4:21016705-21016706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371491807	chr4:21016711-21016712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375821091	chr4:21016715-21016716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564818091	chr4:21016724-21016725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557918417	chr4:21016730-21016731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181798860	chr4:21016748-21016749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80193349	chr4:21016799-21016800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368171713	chr4:21016809-21016810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370653978	chr4:21016846-21016847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560444836	chr4:21016877-21016878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113510471	chr4:21016977-21016978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28870147	chr4:21016999-21017000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148744971	chr4:21017002-21017003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532493647	chr4:21017016-21017017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28844450	chr4:21017023-21017024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200891141	chr4:21017067-21017068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539332134	chr4:21017072-21017073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536504342	chr4:21017145-21017146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573703777	chr4:21017156-21017157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532770180	chr4:21017164-21017165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531908230	chr4:21017199-21017200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535538512	chr4:21017203-21017204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539858491	chr4:21017240-21017241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554957954	chr4:21017258-21017259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537249320	chr4:21017264-21017265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62652512	chr4:21017276-21017277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62642453	chr4:21017280-21017281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540725327	chr4:21017283-21017284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35128915	chr4:21017304-21017305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186446907	chr4:21017308-21017309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558549188	chr4:21017372-21017373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554142818	chr4:21017374-21017375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10050315	chr4:21017389-21017390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10050128	chr4:21017430-21017431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556353219	chr4:21017456-21017457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574687389	chr4:21017466-21017467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542047943	chr4:21017474-21017475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560173268	chr4:21017550-21017551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373451734	chr4:21017575-21017576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527611748	chr4:21017589-21017590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377263030	chr4:21017692-21017693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150889464	chr4:21017705-21017706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21016000-21017800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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