Variant report

Variant	esv275053
Chromosome Location	chr13:89302824-89313844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187113832	chr13:89307811-89307812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192697743	chr13:89307845-89307846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150043519	chr13:89307931-89307932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183021846	chr13:89307958-89307959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563671058	chr13:89307961-89307962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530910344	chr13:89307996-89307997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17628712	chr13:89308835-89308836	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374863492	chr13:89308872-89308873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537588892	chr13:89308917-89308918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536244664	chr13:89308918-89308919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548010809	chr13:89308972-89308973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1326444	chr13:89308999-89309000	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141309897	chr13:89309007-89309008	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557479686	chr13:89309009-89309010	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570269868	chr13:89309024-89309025	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs537787972	chr13:89309032-89309033	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556419106	chr13:89309033-89309034	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575577857	chr13:89309054-89309055	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114835465	chr13:89309138-89309139	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372112020	chr13:89309154-89309155	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7993257	chr13:89309155-89309156	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573397140	chr13:89309197-89309198	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs9583475	chr13:89309210-89309211	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565489558	chr13:89309227-89309228	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532745954	chr13:89309231-89309232	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs544627373	chr13:89309247-89309248	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563177567	chr13:89309254-89309255	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs529693439	chr13:89309285-89309286	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs548187964	chr13:89309290-89309291	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566082384	chr13:89309343-89309344	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs527393159	chr13:89309350-89309351	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs74840510	chr13:89309356-89309357	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs112219724	chr13:89309363-89309364	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs570359254	chr13:89309475-89309476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538021869	chr13:89309477-89309478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556219206	chr13:89309483-89309484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186096861	chr13:89309505-89309506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189054786	chr13:89309548-89309549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181916016	chr13:89309592-89309593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80245370	chr13:89309599-89309600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17628718	chr13:89309600-89309601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89307800-89308000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:89308800-89309000	Enhancers	Hela-S3	cervix
3	chr13:89309000-89309400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:89309000-89309400	Flanking Active TSS	Hela-S3	cervix
5	chr13:89309400-89309600	Enhancers	Hela-S3	cervix

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