Variant report

Variant	nsv528090
Chromosome Location	chr13:62175238-62190998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 338 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17060094	chr13:62175238-62175239	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563442396	chr13:62175266-62175267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533675206	chr13:62175320-62175321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547168937	chr13:62175339-62175340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149335443	chr13:62175366-62175367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376709175	chr13:62175381-62175382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112699175	chr13:62175388-62175389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371865995	chr13:62175400-62175401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183245967	chr13:62175437-62175438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540345260	chr13:62175441-62175442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535906545	chr13:62175493-62175494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534966515	chr13:62175524-62175525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547467942	chr13:62175531-62175532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566076490	chr13:62175532-62175533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549190215	chr13:62175537-62175538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370075847	chr13:62175545-62175546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148035354	chr13:62175554-62175555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187015475	chr13:62175568-62175569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191941025	chr13:62175605-62175606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141668044	chr13:62175612-62175613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555586430	chr13:62175614-62175615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368475702	chr13:62175661-62175662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10681850	chr13:62175679-62175680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2876806	chr13:62175686-62175687	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73214016	chr13:62175709-62175710	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534281314	chr13:62175721-62175722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73214017	chr13:62175752-62175753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577586326	chr13:62175754-62175755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9570602	chr13:62175769-62175770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183567484	chr13:62175963-62175964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530653644	chr13:62175975-62175976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186707694	chr13:62176027-62176028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189986260	chr13:62176047-62176048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528336172	chr13:62176056-62176057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182348084	chr13:62176065-62176066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577470029	chr13:62176096-62176097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9598324	chr13:62176109-62176110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs79900313	chr13:62176110-62176111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551395663	chr13:62176244-62176245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192917854	chr13:62176251-62176252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569811877	chr13:62176265-62176266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139880525	chr13:62176275-62176276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555639794	chr13:62176295-62176296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9598325	chr13:62176296-62176297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534977599	chr13:62176343-62176344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185006638	chr13:62176386-62176387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578210886	chr13:62176402-62176403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369314708	chr13:62176408-62176409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143161101	chr13:62176423-62176424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557044830	chr13:62176424-62176425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
small cell lung cancer	20016488	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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	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
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62174400-62175800	Enhancers	Liver	Liver
2	chr13:62174600-62175400	Enhancers	Brain Cingulate Gyrus	brain
3	chr13:62174800-62175400	Enhancers	Brain Angular Gyrus	brain
4	chr13:62174800-62175800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr13:62175000-62175800	Enhancers	Brain Substantia Nigra	brain
6	chr13:62175200-62177000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:62175200-62177800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:62177000-62178800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:62177800-62179000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:62179000-62182400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:62182000-62182200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:62182000-62183000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr13:62182000-62183000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr13:62182200-62182400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr13:62182200-62182400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:62182200-62182800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:62182200-62183000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr13:62182200-62183000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:62182400-62183000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:62182600-62183000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:62182800-62183000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:62183200-62183400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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