Variant report

Variant	esv3361652
Chromosome Location	chr13:87547651-87551249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553942836	chr13:87547664-87547665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565690444	chr13:87547683-87547684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190247669	chr13:87547691-87547692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539745208	chr13:87547693-87547694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553012684	chr13:87547694-87547695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144358586	chr13:87547769-87547770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576390964	chr13:87547819-87547820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74103615	chr13:87547883-87547884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138020172	chr13:87547898-87547899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182277782	chr13:87547993-87547994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578029271	chr13:87548004-87548005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539048744	chr13:87548089-87548090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559916350	chr13:87548105-87548106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578084020	chr13:87548115-87548116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545181207	chr13:87548188-87548189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369690811	chr13:87548196-87548197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188028149	chr13:87548207-87548208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562128916	chr13:87548300-87548301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142603392	chr13:87548307-87548308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193069872	chr13:87548315-87548316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367953950	chr13:87548322-87548323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561085736	chr13:87548329-87548330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74103616	chr13:87548369-87548370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs76238071	chr13:87548370-87548371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565886000	chr13:87548377-87548378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184160865	chr13:87548397-87548398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551582924	chr13:87548404-87548405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570004449	chr13:87548409-87548410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200764211	chr13:87548456-87548457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555402349	chr13:87548466-87548467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375410069	chr13:87548495-87548496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534730807	chr13:87548569-87548570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541490242	chr13:87548612-87548613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575507803	chr13:87548619-87548620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111917075	chr13:87548635-87548636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577643709	chr13:87548680-87548681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35641228	chr13:87548721-87548722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561065116	chr13:87548738-87548739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563531820	chr13:87548748-87548749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146025696	chr13:87548792-87548793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139986146	chr13:87548835-87548836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56270904	chr13:87548836-87548837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528443559	chr13:87548863-87548864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149764439	chr13:87548875-87548876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565265500	chr13:87548881-87548882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539169368	chr13:87548918-87548919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144687246	chr13:87548932-87548933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376781840	chr13:87548943-87548944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148523637	chr13:87548973-87548974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9523748	chr13:87549014-87549015	Weak transcription	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
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
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87547200-87558000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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