Variant report

Variant	nsv977264
Chromosome Location	chr13:88718070-88722375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1529361	chr13:88720825-88720826	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536409351	chr13:88720826-88720827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574739209	chr13:88720855-88720856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555150494	chr13:88720885-88720886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180677968	chr13:88720886-88720887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560459992	chr13:88720976-88720977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534520783	chr13:88721010-88721011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563092794	chr13:88721029-88721030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527516009	chr13:88721031-88721032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145289649	chr13:88721036-88721037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367874248	chr13:88721039-88721040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544269997	chr13:88721043-88721044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562560739	chr13:88721048-88721049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574593800	chr13:88721052-88721053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563006514	chr13:88721057-88721058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542489332	chr13:88721060-88721061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71101050	chr13:88721069-88721070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531316000	chr13:88721081-88721082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185938648	chr13:88721119-88721120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73578158	chr13:88721148-88721149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs74984360	chr13:88721154-88721155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1855392	chr13:88721178-88721179	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564271758	chr13:88721272-88721273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377359520	chr13:88721286-88721287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192473953	chr13:88721290-88721291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143833511	chr13:88721305-88721306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1855391	chr13:88721307-88721308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78354305	chr13:88721314-88721315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530158097	chr13:88721331-88721332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566817372	chr13:88721353-88721354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115302900	chr13:88721379-88721380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111227540	chr13:88721398-88721399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534154855	chr13:88721410-88721411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559198808	chr13:88721414-88721415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36095716	chr13:88721437-88721438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71823570	chr13:88721438-88721439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398056672	chr13:88721440-88721441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187088356	chr13:88721543-88721544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34308679	chr13:88721544-88721545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398044120	chr13:88721545-88721546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187029212	chr13:88721551-88721552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201096578	chr13:88721580-88721581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574556436	chr13:88721637-88721638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1855390	chr13:88721663-88721664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549984542	chr13:88721677-88721678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553614600	chr13:88721686-88721687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572203168	chr13:88721751-88721752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191449256	chr13:88721755-88721756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564000467	chr13:88721770-88721771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73578160	chr13:88721786-88721787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	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
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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-small cell lung cancer	16651412	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:88720800-88721200	Enhancers	HSMM	muscle
2	chr13:88721000-88721400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:88721400-88723800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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