Variant report

Variant	nsv974255
Chromosome Location	chr13:92767278-92791534
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	chr13:92777089..92778054-chr2:189460184..189460902,2	MCF-7	breast:

Extended variants
information (count: 241 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188060923	chr13:92772035-92772036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192551944	chr13:92772102-92772103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531081397	chr13:92772110-92772111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73626585	chr13:92772135-92772136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372742472	chr13:92772136-92772137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9560926	chr13:92772171-92772172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549088109	chr13:92772206-92772207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148373060	chr13:92772260-92772261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562888691	chr13:92772270-92772271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116371808	chr13:92772286-92772287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377354930	chr13:92772328-92772329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557589951	chr13:92772402-92772403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182365250	chr13:92772414-92772415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527401465	chr13:92772447-92772448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9301779	chr13:92772499-92772500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs556723154	chr13:92772597-92772598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146355640	chr13:92772598-92772599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559138768	chr13:92774268-92774269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575697939	chr13:92774278-92774279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538250434	chr13:92774319-92774320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144530355	chr13:92774327-92774328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575097633	chr13:92774333-92774334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147813239	chr13:92774337-92774338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540437088	chr13:92774343-92774344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184662855	chr13:92774362-92774363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577070794	chr13:92774380-92774381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553102778	chr13:92786036-92786037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530237136	chr13:92786050-92786051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146254003	chr13:92786079-92786080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567775988	chr13:92786114-92786115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536777350	chr13:92786123-92786124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573109597	chr13:92786152-92786153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191604371	chr13:92786208-92786209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184139054	chr13:92786209-92786210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189684041	chr13:92786213-92786214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558993663	chr13:92786255-92786256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540715164	chr13:92786265-92786266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575750646	chr13:92786311-92786312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546034640	chr13:92786384-92786385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139589162	chr13:92786417-92786418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556608035	chr13:92786428-92786429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192711108	chr13:92786437-92786438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542342853	chr13:92786454-92786455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558920154	chr13:92786491-92786492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572792472	chr13:92786588-92786589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185160176	chr13:92786634-92786635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565053738	chr13:92786664-92786665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563884998	chr13:92786666-92786667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532767335	chr13:92786667-92786668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530695491	chr13:92786716-92786717	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92772000-92772600	Enhancers	Fetal Heart	heart
2	chr13:92774200-92774400	Enhancers	Fetal Heart	heart
3	chr13:92786000-92787600	Enhancers	Adipose Nuclei	Adipose
4	chr13:92786200-92787200	Enhancers	Liver	Liver
5	chr13:92787200-92788200	Flanking Active TSS	Liver	Liver
6	chr13:92787400-92787600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:92787400-92788000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr13:92787400-92788200	Enhancers	HepG2	liver
9	chr13:92787600-92787800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:92787600-92789000	Weak transcription	Adipose Nuclei	Adipose
11	chr13:92788000-92789000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr13:92788200-92789200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:92788200-92789600	Enhancers	Liver	Liver
14	chr13:92789000-92789400	Enhancers	Fetal Brain Male	brain
15	chr13:92789000-92790000	Enhancers	Adipose Nuclei	Adipose
16	chr13:92789200-92789400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:92789200-92789600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:92789200-92789600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:92789200-92789600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr13:92789600-92789800	Flanking Active TSS	Liver	Liver
21	chr13:92789800-92790200	Enhancers	Liver	Liver
22	chr13:92790200-92795400	Weak transcription	Liver	Liver

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