Variant report

Variant	esv3371016
Chromosome Location	chr13:88381651-88384649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529302738	chr13:88381666-88381667	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs377154200	chr13:88381692-88381693	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs182673652	chr13:88381693-88381694	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs570971788	chr13:88381729-88381730	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs538265478	chr13:88381736-88381737	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs369680113	chr13:88381753-88381754	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs143397833	chr13:88381765-88381766	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs546625016	chr13:88381855-88381856	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs374210374	chr13:88381858-88381859	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs147971475	chr13:88381859-88381860	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs536580801	chr13:88381863-88381864	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs141639733	chr13:88381880-88381881	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs185539103	chr13:88381884-88381885	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs150094520	chr13:88381917-88381918	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs540366250	chr13:88381926-88381927	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs540779957	chr13:88381932-88381933	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs559107172	chr13:88381956-88381957	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs577384351	chr13:88381977-88381978	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs544695687	chr13:88381990-88381991	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs562904508	chr13:88381992-88381993	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs538395903	chr13:88383415-88383416	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs556705725	chr13:88383436-88383437	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs149526226	chr13:88383484-88383485	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs535505778	chr13:88383506-88383507	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs554168348	chr13:88383510-88383511	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs569555228	chr13:88383531-88383532	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs562493375	chr13:88383586-88383587	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs540180194	chr13:88383677-88383678	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1335396	chr13:88383679-88383680	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374858107	chr13:88383719-88383720	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144160448	chr13:88383720-88383721	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs207474173	chr13:88383778-88383779	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555198900	chr13:88383779-88383780	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573665744	chr13:88383794-88383795	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568629475	chr13:88383798-88383799	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543966658	chr13:88383804-88383805	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370341331	chr13:88383825-88383826	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs16958310	chr13:88383828-88383829	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529823231	chr13:88383876-88383877	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1335397	chr13:88383878-88383879	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560134784	chr13:88383880-88383881	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527274501	chr13:88383925-88383926	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1335398	chr13:88383964-88383965	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552576491	chr13:88384038-88384039	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531960504	chr13:88384068-88384069	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148709995	chr13:88384080-88384081	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11841914	chr13:88384099-88384100	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549898584	chr13:88384107-88384108	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs16958325	chr13:88384139-88384140	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553968593	chr13:88384166-88384167	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:88381600-88382000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
2	chr13:88383400-88384000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
3	chr13:88383600-88384200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr13:88383600-88384200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr13:88383600-88384200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr13:88383600-88384400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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