Variant report

Variant	nsv974035
Chromosome Location	chr13:92804487-92821780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569400881	chr13:92809617-92809618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375810853	chr13:92809630-92809631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75602030	chr13:92809633-92809634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534704325	chr13:92809645-92809646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73620861	chr13:92809646-92809647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145834211	chr13:92809651-92809652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568680927	chr13:92809699-92809700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557614656	chr13:92809704-92809705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534588195	chr13:92809744-92809745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148214918	chr13:92809777-92809778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577895037	chr13:92809870-92809871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112345086	chr13:92809920-92809921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9560942	chr13:92809938-92809939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557011688	chr13:92810008-92810009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141217041	chr13:92810021-92810022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181462415	chr13:92810024-92810025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77954048	chr13:92810069-92810070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553091052	chr13:92810092-92810093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559748811	chr13:92810122-92810123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528516941	chr13:92810144-92810145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551510952	chr13:92810154-92810155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186185459	chr13:92810185-92810186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150710603	chr13:92810189-92810190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373505286	chr13:92810258-92810259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551148702	chr13:92810306-92810307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190904263	chr13:92810347-92810348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73620863	chr13:92810370-92810371	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548691930	chr13:92810409-92810410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs60116075	chr13:92810430-92810431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542952008	chr13:92810447-92810448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139046647	chr13:92810485-92810486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114917698	chr13:92810495-92810496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370699293	chr13:92810523-92810524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76567289	chr13:92810555-92810556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183529288	chr13:92810575-92810576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559579266	chr13:92810589-92810590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543115170	chr13:92810600-92810601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368967194	chr13:92810607-92810608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147215856	chr13:92810639-92810640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573288385	chr13:92810709-92810710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545374871	chr13:92810718-92810719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16947072	chr13:92810743-92810744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187538558	chr13:92810749-92810750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116459963	chr13:92810750-92810751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545465153	chr13:92810753-92810754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62759062	chr13:92810760-92810761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200685348	chr13:92810771-92810772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377094814	chr13:92810778-92810779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561119073	chr13:92810785-92810786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4773670	chr13:92810852-92810853	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92809600-92811400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:92810200-92811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:92810200-92811600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:92810400-92810800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:92810400-92810800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:92810400-92811200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:92810400-92811200	Enhancers	NH-A	brain
8	chr13:92810400-92811600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr13:92810800-92811200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:92810800-92811400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr13:92813400-92813800	Enhancers	Rectal Smooth Muscle	rectum

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