Variant report

Variant	esv3364554
Chromosome Location	chr13:88445551-88448649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574339809	chr13:88445560-88445561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544920236	chr13:88445637-88445638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73580545	chr13:88445666-88445667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9513928	chr13:88445685-88445686	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs578161161	chr13:88445741-88445742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79828618	chr13:88445744-88445745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78188375	chr13:88445774-88445775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73580549	chr13:88445826-88445827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114040313	chr13:88445886-88445887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35118467	chr13:88445892-88445893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184549585	chr13:88445939-88445940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561880140	chr13:88445954-88445955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529141389	chr13:88445999-88446000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373416735	chr13:88448419-88448420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186201640	chr13:88448468-88448469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368652497	chr13:88448477-88448478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11838967	chr13:88448483-88448484	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs542804798	chr13:88448540-88448541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554358428	chr13:88448570-88448571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150498673	chr13:88448596-88448597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568486719	chr13:88448615-88448616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61961003	chr13:88448647-88448648	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
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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:88445400-88446000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:88448400-88449400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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