Variant report

Variant	esv3411311
Chromosome Location	chr13:30214552-30218450
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	chr13:30214449..30216128-chr13:30220444..30222656,3	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578246550	chr13:30214612-30214613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138237899	chr13:30214620-30214621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577998838	chr13:30214626-30214627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117582443	chr13:30214630-30214631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574303159	chr13:30214631-30214632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369999984	chr13:30214653-30214654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542712079	chr13:30214725-30214726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563001144	chr13:30214727-30214728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576505132	chr13:30214752-30214753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187307747	chr13:30214766-30214767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149553665	chr13:30214772-30214773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527558993	chr13:30214774-30214775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547310527	chr13:30214797-30214798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77237606	chr13:30214803-30214804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138992238	chr13:30214823-30214824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75088680	chr13:30214854-30214855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562948542	chr13:30214857-30214858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549758085	chr13:30214869-30214870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527787352	chr13:30214890-30214891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189277691	chr13:30214929-30214930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180900464	chr13:30214936-30214937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552182865	chr13:30214947-30214948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563035726	chr13:30214961-30214962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372616716	chr13:30214965-30214966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377210896	chr13:30214970-30214971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185676871	chr13:30214996-30214997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34097812	chr13:30215009-30215010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534462261	chr13:30215031-30215032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142257800	chr13:30215117-30215118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9508515	chr13:30215136-30215137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536847460	chr13:30215150-30215151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556518760	chr13:30215163-30215164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146406205	chr13:30215169-30215170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561167649	chr13:30215186-30215187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11841439	chr13:30215221-30215222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs148553943	chr13:30215222-30215223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs517178	chr13:30215291-30215292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527910277	chr13:30215337-30215338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547467724	chr13:30215359-30215360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529985201	chr13:30215396-30215397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200366010	chr13:30215436-30215437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201367617	chr13:30215437-30215438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543589805	chr13:30215442-30215443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532063405	chr13:30215448-30215449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190442548	chr13:30215450-30215451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567256624	chr13:30215456-30215457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76485479	chr13:30215552-30215553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182968036	chr13:30215586-30215587	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30214600-30215000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr13:30214800-30215600	Enhancers	HUVEC	blood vessel

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