Variant report

Variant	esv3443893
Chromosome Location	chr13:92558601-92560899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561054859	chr13:92558637-92558638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530012717	chr13:92558652-92558653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374183115	chr13:92558715-92558716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145841913	chr13:92558752-92558753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202246874	chr13:92558766-92558767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539008653	chr13:92558804-92558805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148585205	chr13:92558821-92558822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115214268	chr13:92558836-92558837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538084852	chr13:92558858-92558859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182908360	chr13:92558904-92558905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375316886	chr13:92558957-92558958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528373287	chr13:92559005-92559006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568703027	chr13:92559053-92559054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534233074	chr13:92559064-92559065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553999897	chr13:92559088-92559089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572525445	chr13:92559100-92559101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544567675	chr13:92559148-92559149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142997027	chr13:92559160-92559161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187726130	chr13:92559165-92559166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34091631	chr13:92559340-92559341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138581723	chr13:92559341-92559342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9560886	chr13:92559383-92559384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191071927	chr13:92559446-92559447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146603095	chr13:92559448-92559449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540535637	chr13:92559478-92559479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560455945	chr13:92559589-92559590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532586505	chr13:92559610-92559611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182124097	chr13:92559636-92559637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141363771	chr13:92559653-92559654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs36190602	chr13:92559671-92559672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141939305	chr13:92559672-92559673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397772989	chr13:92559681-92559682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372355846	chr13:92559682-92559683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375493830	chr13:92559683-92559684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569302102	chr13:92559734-92559735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201611577	chr13:92559753-92559754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199620467	chr13:92559755-92559756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369447673	chr13:92559757-92559758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138444594	chr13:92559765-92559766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58557370	chr13:92559779-92559780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531826020	chr13:92559821-92559822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548355008	chr13:92559851-92559852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568320540	chr13:92559897-92559898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369061993	chr13:92559903-92559904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145316929	chr13:92559908-92559909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114149194	chr13:92559948-92559949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146458327	chr13:92559972-92559973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9589368	chr13:92560048-92560049	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs201479471	chr13:92560050-92560051	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558520959	chr13:92560074-92560075	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92558400-92559000	Enhancers	HUVEC	blood vessel
2	chr13:92559000-92559600	Weak transcription	HUVEC	blood vessel
3	chr13:92559600-92560000	Enhancers	HUVEC	blood vessel
4	chr13:92560000-92560600	Flanking Active TSS	HUVEC	blood vessel
5	chr13:92560600-92561400	Active TSS	HUVEC	blood vessel

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