Variant report

Variant	nsv528318
Chromosome Location	chr13:92575622-92607374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:92468912..92469761-chr13:92598813..92599378,2	MCF-7	breast:
2	chr13:92598450..92599301-chr13:92827714..92828302,2	MCF-7	breast:
3	chr13:92602210..92602711-chr5:139088387..139089016,2	MCF-7	breast:
4	chr13:92598658..92599490-chr13:92726652..92727595,3	MCF-7	breast:
5	chr13:92598605..92599754-chr13:92795676..92796694,3	MCF-7	breast:

Extended variants
information (count: 381 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575080008	chr13:92576827-92576828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547425084	chr13:92576834-92576835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537619018	chr13:92576882-92576883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557730619	chr13:92576931-92576932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570710500	chr13:92576942-92576943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112629441	chr13:92576943-92576944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555342660	chr13:92576982-92576983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571921712	chr13:92577160-92577161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368490093	chr13:92577175-92577176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540746109	chr13:92577192-92577193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184463051	chr13:92577230-92577231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372317119	chr13:92577264-92577265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575807903	chr13:92577352-92577353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187400555	chr13:92577404-92577405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568676681	chr13:92577425-92577426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67176352	chr13:92577437-92577438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192246742	chr13:92577493-92577494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529198085	chr13:92577496-92577497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140958560	chr13:92577504-92577505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185499245	chr13:92577584-92577585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190550055	chr13:92577598-92577599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535311939	chr13:92577628-92577629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551931669	chr13:92577678-92577679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571763642	chr13:92577688-92577689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537680377	chr13:92577714-92577715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2352193	chr13:92577770-92577771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116440187	chr13:92577782-92577783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372246672	chr13:92577783-92577784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572786546	chr13:92577795-92577796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536976722	chr13:92577801-92577802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553359339	chr13:92577831-92577832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192708040	chr13:92577905-92577906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376764312	chr13:92577909-92577910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534299863	chr13:92577951-92577952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557478051	chr13:92577974-92577975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184468180	chr13:92577978-92577979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543073013	chr13:92577986-92577987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189787621	chr13:92577988-92577989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181083101	chr13:92577995-92577996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542942478	chr13:92578009-92578010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2882847	chr13:92578066-92578067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559362706	chr13:92578090-92578091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117072120	chr13:92578102-92578103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185565728	chr13:92578152-92578153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369502271	chr13:92578162-92578163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56170633	chr13:92578235-92578236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188767530	chr13:92578266-92578267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181580699	chr13:92578270-92578271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543915121	chr13:92578271-92578272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187338885	chr13:92578272-92578273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Metanephric adenoma	20802469	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	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
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92576800-92578800	Weak transcription	Pancreas	Pancrea
2	chr13:92578800-92579000	ZNF genes & repeats	Pancreas	Pancrea
3	chr13:92585600-92587400	Enhancers	Fetal Lung	lung
4	chr13:92585800-92586200	Enhancers	Ovary	ovary
5	chr13:92585800-92587000	Enhancers	Fetal Kidney	kidney
6	chr13:92586200-92586600	Weak transcription	Ovary	ovary
7	chr13:92586600-92587200	Enhancers	Ovary	ovary
8	chr13:92586800-92587200	Enhancers	Fetal Heart	heart
9	chr13:92598200-92598400	Enhancers	Fetal Brain Male	brain
10	chr13:92598400-92599000	Weak transcription	Fetal Brain Male	brain
11	chr13:92599000-92599200	Enhancers	Fetal Brain Male	brain
12	chr13:92599000-92599400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:92599000-92599400	Enhancers	Brain Cingulate Gyrus	brain
14	chr13:92599200-92602400	Weak transcription	Fetal Brain Male	brain
15	chr13:92599600-92599800	Enhancers	Fetal Brain Female	brain
16	chr13:92599800-92601200	Weak transcription	Fetal Brain Female	brain
17	chr13:92601200-92602000	Enhancers	Fetal Brain Female	brain
18	chr13:92602000-92603600	Weak transcription	Fetal Brain Female	brain
19	chr13:92602400-92602600	Enhancers	Fetal Brain Male	brain
20	chr13:92602600-92603000	Weak transcription	Fetal Brain Male	brain
21	chr13:92603000-92603200	Active TSS	Fetal Brain Male	brain
22	chr13:92603600-92604000	Enhancers	Fetal Brain Female	brain

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