Variant report

Variant	esv3344910
Chromosome Location	chr13:67018601-67021074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553839611	chr13:67018627-67018628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80033063	chr13:67018632-67018633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571009513	chr13:67018641-67018642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536768562	chr13:67018646-67018647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540058826	chr13:67018653-67018654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188994348	chr13:67018717-67018718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576790361	chr13:67018736-67018737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181052523	chr13:67018797-67018798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555470243	chr13:67018851-67018852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555405898	chr13:67018855-67018856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572415847	chr13:67018942-67018943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541121641	chr13:67018984-67018985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564262731	chr13:67019020-67019021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79689543	chr13:67019048-67019049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573762429	chr13:67019061-67019062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73510050	chr13:67019066-67019067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545578296	chr13:67019086-67019087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112430349	chr13:67019101-67019102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562369916	chr13:67019105-67019106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139169167	chr13:67019135-67019136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142086369	chr13:67019218-67019219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548503410	chr13:67019284-67019285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539517870	chr13:67019295-67019296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527281582	chr13:67019349-67019350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367849825	chr13:67019513-67019514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547485703	chr13:67019525-67019526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570575291	chr13:67019580-67019581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539579506	chr13:67019594-67019595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539571979	chr13:67019608-67019609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199611024	chr13:67019612-67019613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567325329	chr13:67019615-67019616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200610691	chr13:67019616-67019617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201604342	chr13:67019627-67019628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35842368	chr13:67019643-67019644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550397468	chr13:67019646-67019647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185473468	chr13:67019662-67019663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189695413	chr13:67019663-67019664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200157580	chr13:67019664-67019665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572323956	chr13:67019678-67019679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9571585	chr13:67019690-67019691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34784053	chr13:67019698-67019699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9540759	chr13:67019699-67019700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184150152	chr13:67019700-67019701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543556811	chr13:67019719-67019720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187407679	chr13:67019728-67019729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545754127	chr13:67019736-67019737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541711337	chr13:67019745-67019746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543489499	chr13:67019762-67019763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112971680	chr13:67019764-67019765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562036026	chr13:67019772-67019773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67015600-67022200	Weak transcription	Brain Hippocampus Middle	brain
2	chr13:67017400-67023000	Weak transcription	Brain Anterior Caudate	brain
3	chr13:67018800-67019000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:67020200-67020800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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