Variant report

Variant	nsv900772
Chromosome Location	chr13:87140651-87235802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:87219074..87220049-chr13:87393792..87394360,2	MCF-7	breast:
2	chr13:87219118..87219726-chr13:87393723..87394529,2	MCF-7	breast:
3	chr13:87219147..87219853-chr13:87926507..87927098,2	MCF-7	breast:

Extended variants
information (count: 730 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:730 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140972253	chr13:87163072-87163073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149777842	chr13:87163102-87163103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575527585	chr13:87163117-87163118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74848444	chr13:87163121-87163122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561222669	chr13:87163124-87163125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573291503	chr13:87163139-87163140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189088038	chr13:87163149-87163150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558061613	chr13:87163211-87163212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80038799	chr13:87163218-87163219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147871301	chr13:87163254-87163255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7986423	chr13:87163259-87163260	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563637056	chr13:87163284-87163285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530412946	chr13:87163310-87163311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549006347	chr13:87163327-87163328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537293587	chr13:87163343-87163344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567201386	chr13:87163369-87163370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534715006	chr13:87163371-87163372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9555815	chr13:87163374-87163375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9555816	chr13:87163459-87163460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141476447	chr13:87163516-87163517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9588474	chr13:87163584-87163585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377217249	chr13:87193840-87193841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs538691412	chr13:87193853-87193854	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs370881595	chr13:87193900-87193901	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs560062826	chr13:87193944-87193945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs9560214	chr13:87193952-87193953	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545516273	chr13:87194006-87194007	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564187205	chr13:87194038-87194039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532845715	chr13:87194125-87194126	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs531278612	chr13:87194155-87194156	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs4283092	chr13:87194187-87194188	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562222017	chr13:87194216-87194217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs569453588	chr13:87194223-87194224	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7996657	chr13:87194322-87194323	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563833140	chr13:87194330-87194331	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs548627558	chr13:87194351-87194352	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs190921089	chr13:87194353-87194354	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566413883	chr13:87194381-87194382	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs181423287	chr13:87194448-87194449	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs369312539	chr13:87194484-87194485	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs186865206	chr13:87194539-87194540	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs570049688	chr13:87194551-87194552	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537111561	chr13:87194573-87194574	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555835533	chr13:87194577-87194578	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567913418	chr13:87194578-87194579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs535306839	chr13:87194581-87194582	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs553634883	chr13:87194582-87194583	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs572037255	chr13:87194594-87194595	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs192005106	chr13:87194629-87194630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs570451627	chr13:87194690-87194691	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87163000-87163600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr13:87193800-87195000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr13:87194200-87194600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr13:87194200-87194600	Active TSS	Hela-S3	cervix
5	chr13:87212000-87212400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:87212200-87212600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:87212200-87212600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:87212200-87212600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:87212200-87212600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:87212400-87215200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:87212600-87215400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:87212600-87215600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:87215200-87216400	Enhancers	HMEC	breast
14	chr13:87215200-87216400	Enhancers	NH-A	brain
15	chr13:87215200-87216600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:87215400-87216400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:87215600-87216000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:87216400-87217200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:87216600-87223400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:87217200-87217400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:87217400-87223000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:87223000-87225400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:87223400-87225600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:87223600-87224200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:87223600-87224600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr13:87223600-87224800	Enhancers	NH-A	brain
27	chr13:87223800-87224800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr13:87224000-87224600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr13:87224000-87224800	Enhancers	HMEC	breast
30	chr13:87224200-87224600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr13:87224200-87224600	Enhancers	Hela-S3	cervix
32	chr13:87224400-87225000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr13:87231000-87231400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr13:87231000-87231400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr13:87231800-87233200	Enhancers	Fetal Heart	heart
36	chr13:87233200-87237400	Weak transcription	Fetal Heart	heart
37	chr13:87234000-87235000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:87235000-87237000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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