Variant report

Variant	nsv1046709
Chromosome Location	chr13:64672766-64710856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 551 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs272361	chr13:64674083-64674084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199646505	chr13:64674095-64674096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568014113	chr13:64674107-64674108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535152292	chr13:64674120-64674121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555236188	chr13:64674142-64674143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573493732	chr13:64674264-64674265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534380713	chr13:64674277-64674278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7490780	chr13:64674285-64674286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567603174	chr13:64674296-64674297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574924104	chr13:64674313-64674314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536243959	chr13:64674315-64674316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74620666	chr13:64674321-64674322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561660444	chr13:64674332-64674333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200830211	chr13:64674334-64674335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544258443	chr13:64674355-64674356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562643490	chr13:64674357-64674358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574486551	chr13:64674384-64674385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541897471	chr13:64674416-64674417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186652421	chr13:64674438-64674439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527565571	chr13:64674455-64674456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191040744	chr13:64674488-64674489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574059610	chr13:64674507-64674508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564235555	chr13:64674532-64674533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373474969	chr13:64674542-64674543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531540610	chr13:64674603-64674604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182006011	chr13:64674608-64674609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145988549	chr13:64674645-64674646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112389160	chr13:64674650-64674651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186542720	chr13:64674670-64674671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553780453	chr13:64674703-64674704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191079795	chr13:64674735-64674736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113190423	chr13:64682803-64682804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529348136	chr13:64682810-64682811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547917667	chr13:64682824-64682825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183810817	chr13:64682836-64682837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9317383	chr13:64682840-64682841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs558070183	chr13:64682841-64682842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9317384	chr13:64682937-64682938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574043005	chr13:64682939-64682940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371056386	chr13:64682968-64682969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113983323	chr13:64682980-64682981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551324716	chr13:64683017-64683018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187980379	chr13:64683084-64683085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117893301	chr13:64683111-64683112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192409304	chr13:64683121-64683122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140261161	chr13:64683161-64683162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144180083	chr13:64683168-64683169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs272347	chr13:64683185-64683186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs369176397	chr13:64683209-64683210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147969665	chr13:64683228-64683229	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64674000-64674800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:64682800-64683800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr13:64683000-64683600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:64695000-64695800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:64695600-64695800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:64695800-64706200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:64697200-64698400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:64701800-64702400	Enhancers	HUVEC	blood vessel
9	chr13:64704400-64706000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr13:64704600-64705000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:64704600-64705000	Enhancers	Fetal Muscle Trunk	muscle
12	chr13:64704600-64705000	Enhancers	HSMM	muscle
13	chr13:64704600-64705400	Enhancers	Adipose Nuclei	Adipose
14	chr13:64704600-64705600	Enhancers	Fetal Muscle Leg	muscle
15	chr13:64705000-64705600	Enhancers	HSMMtube	muscle
16	chr13:64705600-64706800	Weak transcription	Fetal Muscle Leg	muscle
17	chr13:64706200-64706400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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