Variant report

Variant	esv3423037
Chromosome Location	chr13:86201226-86203174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554161437	chr13:86201622-86201623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4540964	chr13:86201628-86201629	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189191004	chr13:86201656-86201657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558615635	chr13:86201671-86201672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191729086	chr13:86201707-86201708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544123747	chr13:86201729-86201730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs67723051	chr13:86202009-86202010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533246146	chr13:86202013-86202014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377720497	chr13:86202078-86202079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180911615	chr13:86202083-86202084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568901484	chr13:86202131-86202132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201812776	chr13:86202148-86202149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140920288	chr13:86202284-86202285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556911423	chr13:86202390-86202391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547912146	chr13:86202423-86202424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566118466	chr13:86202448-86202449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374768604	chr13:86202459-86202460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533580130	chr13:86202464-86202465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9547289	chr13:86202606-86202607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs35441730	chr13:86202630-86202631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370472936	chr13:86202664-86202665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570656605	chr13:86202710-86202711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372490210	chr13:86202720-86202721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7330651	chr13:86202726-86202727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574957293	chr13:86202741-86202742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542321501	chr13:86202794-86202795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561030622	chr13:86202829-86202830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201516327	chr13:86202830-86202831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560370166	chr13:86202835-86202836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572468279	chr13:86202854-86202855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546223234	chr13:86202898-86202899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564761453	chr13:86202980-86202981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531929798	chr13:86203010-86203011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199622986	chr13:86203062-86203063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1928140	chr13:86203095-86203096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35835851	chr13:86203104-86203105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397851410	chr13:86203105-86203106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs67503428	chr13:86203115-86203116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71445352	chr13:86203116-86203117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187009977	chr13:86203119-86203120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71445353	chr13:86203124-86203125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145613927	chr13:86203128-86203129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71445354	chr13:86203130-86203131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61527924	chr13:86203142-86203143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142960211	chr13:86203143-86203144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370579746	chr13:86203144-86203145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555048468	chr13:86203145-86203146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7331443	chr13:86203146-86203147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577114088	chr13:86203158-86203159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86201600-86201800	Enhancers	Brain Anterior Caudate	brain
2	chr13:86202000-86204200	Weak transcription	Brain Anterior Caudate	brain

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