Variant report

Variant	esv1807684
Chromosome Location	chr3:162717225-162732247
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	chr3:162730866..162732605-chr3:162732763..162734314,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143712393	chr3:162717226-162717227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542727040	chr3:162717228-162717229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530574141	chr3:162717258-162717259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112440905	chr3:162717286-162717287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199540876	chr3:162717307-162717308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73027148	chr3:162717309-162717310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201405605	chr3:162717310-162717311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571915225	chr3:162717362-162717363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527930034	chr3:162717425-162717426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547411815	chr3:162717435-162717436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116682934	chr3:162717479-162717480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141054553	chr3:162717545-162717546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556218009	chr3:162717617-162717618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35363575	chr3:162717683-162717684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144795614	chr3:162717684-162717685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565804993	chr3:162717685-162717686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397874788	chr3:162717687-162717688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114170498	chr3:162717703-162717704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538035852	chr3:162717705-162717706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186904103	chr3:162717746-162717747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192659458	chr3:162717754-162717755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577889489	chr3:162717798-162717799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115133284	chr3:162717812-162717813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34867804	chr3:162717824-162717825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397876912	chr3:162717834-162717835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547567254	chr3:162717841-162717842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146827146	chr3:162717888-162717889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185056781	chr3:162717928-162717929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189982568	chr3:162717968-162717969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111303051	chr3:162717973-162717974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557819778	chr3:162724805-162724806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373577404	chr3:162724826-162724827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1488176	chr3:162724843-162724844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148697553	chr3:162724868-162724869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1488175	chr3:162724877-162724878	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs180707174	chr3:162724881-162724882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541767162	chr3:162724927-162724928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555628023	chr3:162725011-162725012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1488174	chr3:162725033-162725034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs1488173	chr3:162725052-162725053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs9283624	chr3:162725098-162725099	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142778635	chr3:162725122-162725123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151046587	chr3:162725141-162725142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9283625	chr3:162725151-162725152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529499733	chr3:162725180-162725181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140987408	chr3:162725200-162725201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186013465	chr3:162725205-162725206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76756948	chr3:162725222-162725223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144723523	chr3:162725227-162725228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189738088	chr3:162725228-162725229	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162716400-162718000	Enhancers	Dnd41	blood
2	chr3:162724800-162725600	Enhancers	Dnd41	blood

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