Variant report

Variant	esv3332736
Chromosome Location	chr13:89858251-89861749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 87 )

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	rs183756100	chr13:89858269-89858270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538364814	chr13:89858270-89858271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546167093	chr13:89858286-89858287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149579008	chr13:89858304-89858305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562810701	chr13:89858310-89858311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531902800	chr13:89858329-89858330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199575859	chr13:89858332-89858333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368008927	chr13:89858333-89858334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs415859	chr13:89858347-89858348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201654747	chr13:89858390-89858391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374707098	chr13:89858413-89858414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535801037	chr13:89858430-89858431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186613328	chr13:89858495-89858496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2120871	chr13:89858500-89858501	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546720768	chr13:89858522-89858523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540108418	chr13:89858533-89858534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558095588	chr13:89858540-89858541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576199366	chr13:89858562-89858563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs393546	chr13:89858571-89858572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535174060	chr13:89860422-89860423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539747383	chr13:89860462-89860463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571359165	chr13:89860477-89860478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369136051	chr13:89860513-89860514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538339567	chr13:89860523-89860524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs151132770	chr13:89860544-89860545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575281760	chr13:89860548-89860549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114229135	chr13:89860583-89860584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554862170	chr13:89860644-89860645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572954379	chr13:89860675-89860676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185421438	chr13:89860685-89860686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560717589	chr13:89860686-89860687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533498683	chr13:89860710-89860711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545073114	chr13:89860734-89860735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563358528	chr13:89860743-89860744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530774512	chr13:89860769-89860770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549271128	chr13:89860813-89860814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112834773	chr13:89860856-89860857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528770155	chr13:89860886-89860887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565136	chr13:89860902-89860903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547204831	chr13:89860908-89860909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140109278	chr13:89860910-89860911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538759644	chr13:89860986-89860987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550658755	chr13:89861009-89861010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568876421	chr13:89861018-89861019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78633655	chr13:89861058-89861059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150317540	chr13:89861059-89861060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573128011	chr13:89861079-89861080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533826089	chr13:89861168-89861169	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	16651412	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89858000-89858600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:89858000-89858600	Enhancers	Fetal Lung	lung
3	chr13:89858200-89858600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr13:89860400-89861200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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