Variant report

Variant	nsv974264
Chromosome Location	chr13:86983091-87002287
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	chr10:71615958..71616660-chr13:86999925..87000629,2	MCF-7	breast:

Extended variants
information (count: 314 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:314 , 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	rs537906138	chr13:86993110-86993111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369923361	chr13:86993120-86993121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562420938	chr13:86993146-86993147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113015619	chr13:86993153-86993154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75553202	chr13:86993176-86993177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528138970	chr13:86993206-86993207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181768858	chr13:86993242-86993243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565087399	chr13:86993290-86993291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532560862	chr13:86993317-86993318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373340372	chr13:86993339-86993340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574932631	chr13:86993348-86993349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs58265487	chr13:86993417-86993418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115671156	chr13:86993419-86993420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536568246	chr13:86993473-86993474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548529047	chr13:86993511-86993512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186933856	chr13:86993554-86993555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534238632	chr13:86993611-86993612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200693930	chr13:86993618-86993619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368390999	chr13:86993668-86993669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111918618	chr13:86993670-86993671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577454373	chr13:86993680-86993681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538821194	chr13:86993687-86993688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78607548	chr13:86993696-86993697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182528524	chr13:86993722-86993723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556904419	chr13:86993733-86993734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575467122	chr13:86993815-86993816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368817250	chr13:86993818-86993819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73552169	chr13:86993853-86993854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560898236	chr13:86993867-86993868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373156045	chr13:86993896-86993897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184908143	chr13:86993993-86993994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564624896	chr13:86993998-86993999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377245912	chr13:86994014-86994015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112693703	chr13:86994083-86994084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79937486	chr13:86994097-86994098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551128187	chr13:86994179-86994180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189811188	chr13:86994231-86994232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530380002	chr13:86994245-86994246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375295166	chr13:86994254-86994255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182300286	chr13:86994294-86994295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78872949	chr13:86994329-86994330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552637738	chr13:86994333-86994334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570936573	chr13:86994359-86994360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538362981	chr13:86994362-86994363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557084266	chr13:86994389-86994390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545990970	chr13:86994393-86994394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564330647	chr13:86994418-86994419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568964794	chr13:86994426-86994427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576049443	chr13:86994433-86994434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536497605	chr13:86994435-86994436	Weak transcription	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	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86993000-87001600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:86996600-86997600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:86998200-86999200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr13:87001000-87002800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:87001600-87002000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:87002000-87002800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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