Variant report

Variant	nsv900289
Chromosome Location	chr13:63942220-64050360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:63976701..63978300-chr13:63983379..63985092,2	MCF-7	breast:
2	chr13:64029217..64030812-chr2:218574718..218576354,2	MCF-7	breast:
3	chr13:63955263..63957196-chr13:63958888..63961483,2	MCF-7	breast:
4	chr13:63955263..63957196-chr13:63958888..63961483,2	MCF-7	breast:
5	chr13:62693652..62694547-chr13:64030161..64030676,2	MCF-7	breast:
6	chr13:63976701..63978300-chr13:63983379..63985092,2	MCF-7	breast:

Extended variants
information (count: 2227 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2227 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575903242	chr13:63949832-63949833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543231631	chr13:63949878-63949879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs386771677	chr13:63949890-63949891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74850787	chr13:63949920-63949921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375797857	chr13:63949925-63949926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561405293	chr13:63949955-63949956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368446861	chr13:63949979-63949980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9539721	chr13:63949981-63949982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9539722	chr13:63949987-63949988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539432232	chr13:63950034-63950035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190177026	chr13:63950048-63950049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540903433	chr13:63950091-63950092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148314432	chr13:63950109-63950110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560781047	chr13:63950175-63950176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113877388	chr13:63950177-63950178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372384544	chr13:63950179-63950180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193090867	chr13:63950211-63950212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576649173	chr13:63950237-63950238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184722494	chr13:63950253-63950254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189216067	chr13:63950282-63950283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569057711	chr13:63950294-63950295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536037905	chr13:63950412-63950413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73205452	chr13:63950429-63950430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180893822	chr13:63950442-63950443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185201422	chr13:63950445-63950446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189362791	chr13:63950462-63950463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576897350	chr13:63950464-63950465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116090406	chr13:63950496-63950497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs67408169	chr13:63950517-63950518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181450464	chr13:63950519-63950520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76295533	chr13:63950520-63950521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561507231	chr13:63950521-63950522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573363174	chr13:63950527-63950528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61953561	chr13:63950594-63950595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577585010	chr13:63950597-63950598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373130045	chr13:63950606-63950607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565278595	chr13:63950633-63950634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186464802	chr13:63950667-63950668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141416084	chr13:63950713-63950714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191606174	chr13:63950728-63950729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199722134	chr13:63952213-63952214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138605389	chr13:63952224-63952225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375504275	chr13:63952225-63952226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528264882	chr13:63952236-63952237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375306959	chr13:63952238-63952239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111239533	chr13:63952239-63952240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546337902	chr13:63952263-63952264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370493558	chr13:63952272-63952273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9539724	chr13:63952283-63952284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72010368	chr13:63952293-63952294	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:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63949800-63950800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:63950000-63950400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:63952200-63952800	Enhancers	Dnd41	blood
4	chr13:63954400-63956000	Enhancers	Dnd41	blood
5	chr13:63955200-63956200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:63964000-63964400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:63971000-63971200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:63971200-63978200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:63977800-63978400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:63978000-63978800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr13:63978200-63978400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:63978400-63978800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr13:63978400-63979000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr13:63978400-63981800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:63978800-63982600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:63979000-63979200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr13:63980200-63981400	Enhancers	Fetal Lung	lung
18	chr13:63980800-63981000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:63981000-63982600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:63981400-63982400	Weak transcription	Fetal Lung	lung
21	chr13:63981800-63982600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:63982000-63984000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:63982200-63983600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:63982400-63982600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:63982400-63982600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:63982400-63982600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:63982400-63983000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr13:63982400-63983000	Enhancers	Fetal Lung	lung
29	chr13:63982400-63983200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:63982400-63983200	Enhancers	Rectal Smooth Muscle	rectum
31	chr13:63982400-63983400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr13:63982400-63983600	Enhancers	Osteobl	bone
33	chr13:63982400-63983800	Active TSS	Fetal Brain Male	brain
34	chr13:63982600-63982800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:63982600-63983000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:63982600-63983000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:63982600-63983200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:63982600-63983200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:63982600-63983200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:63982600-63983200	Enhancers	Adipose Nuclei	Adipose
41	chr13:63982600-63983400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr13:63982600-63983600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:63982600-63984200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:63982800-63983200	Enhancers	Fetal Stomach	stomach
45	chr13:63982800-63983200	Active TSS	NHDF-Ad	bronchial
46	chr13:63982800-63983800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:63983000-63983200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:63983200-63983400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr13:63983200-63984000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:63983200-63984200	Weak transcription	Adipose Nuclei	Adipose

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