Variant report

Variant	nsv900382
Chromosome Location	chr13:66068930-66114004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:65802985..65805270-chr13:66070535..66073117,2	K562	blood:
2	chr1:106318966..106319467-chr13:66093606..66094106,2	NB4	blood:

Extended variants
information (count: 339 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:339 , 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	rs534637436	chr13:66071448-66071449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557622755	chr13:66071478-66071479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578007757	chr13:66071544-66071545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34733215	chr13:66071570-66071571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370823332	chr13:66071572-66071573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537058345	chr13:66071577-66071578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73512764	chr13:66071601-66071602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574070032	chr13:66071602-66071603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543118863	chr13:66071603-66071604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553637651	chr13:66071634-66071635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181800829	chr13:66071715-66071716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185271743	chr13:66071731-66071732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565441108	chr13:66071737-66071738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138733942	chr13:66071747-66071748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538404761	chr13:66071752-66071753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543067699	chr13:66071819-66071820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563267553	chr13:66071830-66071831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117525855	chr13:66071863-66071864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548655222	chr13:66071894-66071895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141792512	chr13:66071937-66071938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs202181921	chr13:66071947-66071948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112009049	chr13:66071948-66071949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34675867	chr13:66071949-66071950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565582271	chr13:66071950-66071951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141750896	chr13:66072030-66072031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551511493	chr13:66072068-66072069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7329906	chr13:66072088-66072089	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7329398	chr13:66072093-66072094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190130982	chr13:66072099-66072100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182662400	chr13:66072100-66072101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146235306	chr13:66072179-66072180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553499856	chr13:66072257-66072258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533847289	chr13:66072299-66072300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185078084	chr13:66072335-66072336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs386771825	chr13:66072348-66072349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149901253	chr13:66072349-66072350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544868403	chr13:66072438-66072439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563174058	chr13:66072496-66072497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4638449	chr13:66072501-66072502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190900856	chr13:66072531-66072532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564967347	chr13:66072580-66072581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9540449	chr13:66073628-66073629	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs142480429	chr13:66073639-66073640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369795106	chr13:66073644-66073645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373481773	chr13:66073669-66073670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572492841	chr13:66073685-66073686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111670179	chr13:66073713-66073714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544822604	chr13:66073766-66073767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552310275	chr13:66073813-66073814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564995703	chr13:66073835-66073836	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66071400-66071800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:66071400-66072200	Enhancers	NH-A	brain
3	chr13:66071600-66072000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:66071600-66072000	Enhancers	Hela-S3	cervix
5	chr13:66071600-66072200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:66071800-66072200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:66071800-66072200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:66072000-66072600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr13:66073600-66074000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:66081200-66081400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:66081200-66082400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:66081800-66083000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:66083000-66083400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:66083400-66083600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:66083600-66084000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:66102400-66103200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:66102600-66104600	Enhancers	Fetal Lung	lung
18	chr13:66102800-66103200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:66102800-66103200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:66104200-66107400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:66104400-66105600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:66104800-66105000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:66113800-66114800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:66113800-66115000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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