Variant report

Variant	esv3426145
Chromosome Location	chr13:87088401-87090774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79868113	chr13:87090025-87090026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553207967	chr13:87090036-87090037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184975411	chr13:87090064-87090065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188067767	chr13:87090103-87090104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539883980	chr13:87090204-87090205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181023641	chr13:87090227-87090228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35254449	chr13:87090298-87090299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374294159	chr13:87090331-87090332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187365226	chr13:87090333-87090334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542302963	chr13:87090338-87090339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs924634	chr13:87090400-87090401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs202202037	chr13:87090407-87090408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572611574	chr13:87090438-87090439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558701105	chr13:87090484-87090485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9519268	chr13:87090490-87090491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192130290	chr13:87090508-87090509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147094538	chr13:87090531-87090532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183482045	chr13:87090539-87090540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138261426	chr13:87090572-87090573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374231470	chr13:87090576-87090577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530097281	chr13:87090585-87090586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149597646	chr13:87090609-87090610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543440447	chr13:87090710-87090711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566925694	chr13:87090716-87090717	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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	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
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87090000-87091000	Enhancers	Hela-S3	cervix
2	chr13:87090000-87091400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr13:87090000-87092400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:87090200-87091600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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