Variant report

Variant	nsv900885
Chromosome Location	chr13:92561714-92621620
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 466 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181303671	chr13:92565606-92565607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185530464	chr13:92565626-92565627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572617891	chr13:92565629-92565630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377309859	chr13:92565650-92565651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11840276	chr13:92565664-92565665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565095887	chr13:92565703-92565704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375461168	chr13:92565737-92565738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544538283	chr13:92565759-92565760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11840583	chr13:92565763-92565764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544559327	chr13:92565778-92565779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141847639	chr13:92565799-92565800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546995600	chr13:92565838-92565839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566899098	chr13:92565865-92565866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532648606	chr13:92565921-92565922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552342944	chr13:92565936-92565937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575486945	chr13:92566022-92566023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370956127	chr13:92566028-92566029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75430106	chr13:92566048-92566049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146140911	chr13:92566064-92566065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188759324	chr13:92566092-92566093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182015017	chr13:92566113-92566114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568395299	chr13:92566132-92566133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535893551	chr13:92566148-92566149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552542386	chr13:92566175-92566176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572705977	chr13:92566177-92566178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544215248	chr13:92566182-92566183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142715457	chr13:92571801-92571802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553991469	chr13:92571832-92571833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74805995	chr13:92571895-92571896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577136516	chr13:92571903-92571904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528243982	chr13:92571924-92571925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535098399	chr13:92571972-92571973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545301358	chr13:92571985-92571986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369867812	chr13:92571992-92571993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146059181	chr13:92571996-92571997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550994650	chr13:92572005-92572006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562806284	chr13:92572013-92572014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138832837	chr13:92572030-92572031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530224034	chr13:92572067-92572068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183028306	chr13:92572094-92572095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142228129	chr13:92572103-92572104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35649197	chr13:92572121-92572122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187752358	chr13:92572140-92572141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552867452	chr13:92572153-92572154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191003687	chr13:92572163-92572164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9523448	chr13:92572180-92572181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575080008	chr13:92576827-92576828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547425084	chr13:92576834-92576835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537619018	chr13:92576882-92576883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557730619	chr13:92576931-92576932	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92565600-92566200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:92571800-92572200	Enhancers	Fetal Heart	heart
3	chr13:92576800-92578800	Weak transcription	Pancreas	Pancrea
4	chr13:92578800-92579000	ZNF genes & repeats	Pancreas	Pancrea
5	chr13:92585600-92587400	Enhancers	Fetal Lung	lung
6	chr13:92585800-92586200	Enhancers	Ovary	ovary
7	chr13:92585800-92587000	Enhancers	Fetal Kidney	kidney
8	chr13:92586200-92586600	Weak transcription	Ovary	ovary
9	chr13:92586600-92587200	Enhancers	Ovary	ovary
10	chr13:92586800-92587200	Enhancers	Fetal Heart	heart
11	chr13:92598200-92598400	Enhancers	Fetal Brain Male	brain
12	chr13:92598400-92599000	Weak transcription	Fetal Brain Male	brain
13	chr13:92599000-92599200	Enhancers	Fetal Brain Male	brain
14	chr13:92599000-92599400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:92599000-92599400	Enhancers	Brain Cingulate Gyrus	brain
16	chr13:92599200-92602400	Weak transcription	Fetal Brain Male	brain
17	chr13:92599600-92599800	Enhancers	Fetal Brain Female	brain
18	chr13:92599800-92601200	Weak transcription	Fetal Brain Female	brain
19	chr13:92601200-92602000	Enhancers	Fetal Brain Female	brain
20	chr13:92602000-92603600	Weak transcription	Fetal Brain Female	brain
21	chr13:92602400-92602600	Enhancers	Fetal Brain Male	brain
22	chr13:92602600-92603000	Weak transcription	Fetal Brain Male	brain
23	chr13:92603000-92603200	Active TSS	Fetal Brain Male	brain
24	chr13:92603600-92604000	Enhancers	Fetal Brain Female	brain
25	chr13:92607400-92608200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:92607600-92608000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr13:92607600-92608200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:92607600-92608400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:92607800-92608200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:92607800-92608200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:92608000-92608400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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