Variant report

Variant	esv3403765
Chromosome Location	chr13:89110451-89111849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553250548	chr13:89110475-89110476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571318704	chr13:89110494-89110495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148059386	chr13:89110555-89110556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556725280	chr13:89110561-89110562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575185675	chr13:89110573-89110574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536093425	chr13:89110641-89110642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555348308	chr13:89110677-89110678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573736820	chr13:89110750-89110751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541411226	chr13:89110800-89110801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559618896	chr13:89110817-89110818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578036785	chr13:89110819-89110820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536978406	chr13:89110848-89110849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148637588	chr13:89110874-89110875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542220438	chr13:89110877-89110878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563986616	chr13:89110898-89110899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539331875	chr13:89110899-89110900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs5805508	chr13:89110900-89110901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372769790	chr13:89110911-89110912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545288406	chr13:89110915-89110916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563845350	chr13:89110916-89110917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570984157	chr13:89110920-89110921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531235033	chr13:89110939-89110940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185150766	chr13:89110942-89110943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12561154	chr13:89110984-89110985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9555451	chr13:89110993-89110994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376720640	chr13:89111008-89111009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536153535	chr13:89111037-89111038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10674961	chr13:89111041-89111042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371267633	chr13:89111061-89111062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188318125	chr13:89111066-89111067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71101078	chr13:89111085-89111086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113576092	chr13:89111095-89111096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113723161	chr13:89111150-89111151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535149057	chr13:89111163-89111164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs66960519	chr13:89111164-89111165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142689887	chr13:89111312-89111313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146055029	chr13:89111396-89111397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370969525	chr13:89111400-89111401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528123053	chr13:89111454-89111455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546555507	chr13:89111498-89111499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571291794	chr13:89111570-89111571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs338707	chr13:89111586-89111587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs140005835	chr13:89111599-89111600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568667480	chr13:89111735-89111736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74455234	chr13:89111768-89111769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544040078	chr13:89111780-89111781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Non-small cell lung cancer	16651412	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89104200-89113200	Weak transcription	Fetal Heart	heart
2	chr13:89107000-89112600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:89111400-89116000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:89111600-89111800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr13:89111600-89113200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:89111600-89113800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:89111600-89115600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:89111800-89115400	Weak transcription	H9 Cell Line	embryonic stem cell

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