Variant report

Variant	nsv900309
Chromosome Location	chr13:63994086-64050360
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	chr13:64029217..64030812-chr2:218574718..218576354,2	MCF-7	breast:
2	chr13:62693652..62694547-chr13:64030161..64030676,2	MCF-7	breast:

Extended variants
information (count: 1300 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1300 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193169187	chr13:63998605-63998606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138659285	chr13:63998622-63998623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1340494	chr13:63998635-63998636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545183314	chr13:63998643-63998644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557162566	chr13:63998672-63998673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575845049	chr13:63998721-63998722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543346825	chr13:63998750-63998751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561433949	chr13:63998788-63998789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528458510	chr13:63998823-63998824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35098386	chr13:63998863-63998864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540646921	chr13:63998904-63998905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141670917	chr13:63998905-63998906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146205158	chr13:63998930-63998931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9539743	chr13:63998950-63998951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577064815	chr13:63998958-63998959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9539744	chr13:63998967-63998968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529856210	chr13:63998996-63998997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9539745	chr13:63999012-63999013	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs375360454	chr13:63999102-63999103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561773	chr13:63999108-63999109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558166843	chr13:63999110-63999111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9539746	chr13:63999125-63999126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371912497	chr13:63999150-63999151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141133927	chr13:63999196-63999197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111774874	chr13:63999199-63999200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386771680	chr13:63999203-63999204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201022164	chr13:63999207-63999208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59877704	chr13:63999210-63999211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140037656	chr13:63999244-63999245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117525733	chr13:63999257-63999258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555209570	chr13:63999310-63999311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79444386	chr13:63999311-63999312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs637383	chr13:63999337-63999338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565324237	chr13:63999353-63999354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9539747	chr13:63999357-63999358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185305514	chr13:63999359-63999360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189504727	chr13:63999368-63999369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562841139	chr13:63999387-63999388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373103038	chr13:63999390-63999391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369788100	chr13:63999420-63999421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370223474	chr13:63999435-63999436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548100790	chr13:63999451-63999452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566745903	chr13:63999471-63999472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377036584	chr13:63999496-63999497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533182921	chr13:63999541-63999542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527610976	chr13:63999570-63999571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78220304	chr13:63999617-63999618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570153999	chr13:63999624-63999625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117078171	chr13:63999653-63999654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370241618	chr13:63999695-63999696	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63998600-63999000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:63998600-63999400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:63998800-63999600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:63999200-63999600	Enhancers	Osteobl	bone
5	chr13:63999400-63999800	Enhancers	HMEC	breast
6	chr13:64001000-64001800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:64002600-64010200	Weak transcription	NHDF-Ad	bronchial
8	chr13:64005800-64006000	Enhancers	Hela-S3	cervix
9	chr13:64006000-64007800	Weak transcription	Hela-S3	cervix
10	chr13:64006800-64008200	Enhancers	Osteobl	bone
11	chr13:64006800-64008800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:64007200-64008800	Enhancers	HMEC	breast
13	chr13:64007200-64009600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:64007400-64008800	Enhancers	HUVEC	blood vessel
15	chr13:64007400-64010800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:64007600-64008000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:64007600-64008600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:64007600-64008600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:64007600-64008800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr13:64007800-64008000	Enhancers	NH-A	brain
21	chr13:64007800-64008400	Enhancers	Hela-S3	cervix
22	chr13:64007800-64008600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:64008000-64008400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:64008000-64009400	Weak transcription	NH-A	brain
25	chr13:64008000-64010200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:64008200-64008600	Flanking Active TSS	Osteobl	bone
27	chr13:64008400-64009600	Weak transcription	Hela-S3	cervix
28	chr13:64008400-64010400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:64008600-64009800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:64008600-64009800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:64008600-64010000	Enhancers	Osteobl	bone
32	chr13:64008600-64010200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:64008800-64009200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:64008800-64009200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr13:64008800-64009200	Weak transcription	HMEC	breast
36	chr13:64008800-64009800	Weak transcription	HUVEC	blood vessel
37	chr13:64009200-64011000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:64009200-64011600	Enhancers	HMEC	breast
39	chr13:64009200-64012200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:64009400-64010000	Enhancers	NH-A	brain
41	chr13:64009600-64009800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:64009600-64011800	Enhancers	Hela-S3	cervix
43	chr13:64009800-64010000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:64009800-64010000	Enhancers	HUVEC	blood vessel
45	chr13:64009800-64010800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:64009800-64010800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:64009800-64011000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:64010000-64010400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr13:64010000-64010400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr13:64010000-64010600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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