Variant report

Variant	nsv511518
Chromosome Location	chr13:39934077-39936903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6563698	chr13:39934077-39934078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548009891	chr13:39934081-39934082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189404736	chr13:39934088-39934089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527631356	chr13:39934089-39934090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547668262	chr13:39934109-39934110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570357926	chr13:39934115-39934116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114544348	chr13:39934144-39934145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574606226	chr13:39934147-39934148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562549417	chr13:39934148-39934149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549920658	chr13:39934173-39934174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569792610	chr13:39934186-39934187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7999083	chr13:39934189-39934190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11321233	chr13:39934198-39934199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375335643	chr13:39934200-39934201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61945280	chr13:39934204-39934205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs8001260	chr13:39934219-39934220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8000602	chr13:39934220-39934221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8000604	chr13:39934226-39934227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1177831	chr13:39934227-39934228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1184658	chr13:39934236-39934237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59927895	chr13:39934237-39934238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs61945281	chr13:39934239-39934240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61945282	chr13:39934243-39934244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1175915	chr13:39934251-39934252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61945283	chr13:39934260-39934261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs61945284	chr13:39934261-39934262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61945285	chr13:39934263-39934264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs61469513	chr13:39934273-39934274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs61945287	chr13:39934277-39934278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61945288	chr13:39934278-39934279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61945289	chr13:39934282-39934283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61945290	chr13:39934283-39934284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535009208	chr13:39934289-39934290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7983968	chr13:39934295-39934296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558388945	chr13:39934307-39934308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577630736	chr13:39934319-39934320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75156552	chr13:39934330-39934331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1185409	chr13:39934349-39934350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76633371	chr13:39934363-39934364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75549764	chr13:39934384-39934385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60645370	chr13:39934391-39934392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55874275	chr13:39934399-39934400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs77667268	chr13:39934422-39934423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111843053	chr13:39934423-39934424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75491098	chr13:39934436-39934437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12429978	chr13:39934462-39934463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113759959	chr13:39934531-39934532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111271716	chr13:39934598-39934599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148521296	chr13:39934629-39934630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55958075	chr13:39934649-39934650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39925200-39936800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:39925200-39938600	Weak transcription	Aorta	Aorta
3	chr13:39928400-39936400	Weak transcription	Left Ventricle	heart
4	chr13:39928400-39939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:39928400-39939000	Weak transcription	Right Atrium	heart
6	chr13:39928800-39938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:39929200-39938800	Weak transcription	Fetal Heart	heart
8	chr13:39933600-39936400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:39933800-39937000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:39936000-39937800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:39936400-39937200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:39936400-39937400	Enhancers	Left Ventricle	heart
13	chr13:39936600-39941000	Enhancers	NHDF-Ad	bronchial
14	chr13:39936800-39937000	Enhancers	Gastric	stomach
15	chr13:39936800-39937000	Enhancers	NHEK	skin
16	chr13:39936800-39937200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:39936800-39937400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:39936800-39937400	Enhancers	Lung	lung
19	chr13:39936800-39937400	Enhancers	Right Ventricle	heart
20	chr13:39936800-39937600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:39936800-39937800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:39936800-39939400	Enhancers	Ovary	ovary
23	chr13:39936800-39939600	Enhancers	Brain Cingulate Gyrus	brain
24	chr13:39936800-39939600	Enhancers	Brain Substantia Nigra	brain
25	chr13:39936800-39939800	Enhancers	Fetal Lung	lung

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