Variant report

Variant	nsv561511
Chromosome Location	chr13:38655046-38701046
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	chr13:38697528..38699053-chr13:38760202..38763046,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPC4-1	chr13:38667563-38667685	NONHSAT033261
2	lnc-TRPC4-1	chr13:38663710-38663797	NONHSAT033261

Extended variants
information (count: 1220 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1577779	chr13:38655046-38655047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558792513	chr13:38655050-38655051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150769923	chr13:38655109-38655110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535384153	chr13:38655206-38655207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117945072	chr13:38655251-38655252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367570647	chr13:38655292-38655293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552971535	chr13:38655297-38655298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573025827	chr13:38655313-38655314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1856078	chr13:38655338-38655339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539217778	chr13:38655376-38655377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73452163	chr13:38655431-38655432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192240129	chr13:38655507-38655508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557445460	chr13:38655510-38655511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572810850	chr13:38655557-38655558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551258183	chr13:38655587-38655588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563039510	chr13:38655602-38655603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531602536	chr13:38655605-38655606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540224352	chr13:38655714-38655715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554711355	chr13:38655723-38655724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530335520	chr13:38655797-38655798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561521152	chr13:38655813-38655814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184481669	chr13:38655844-38655845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377271787	chr13:38655845-38655846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575115958	chr13:38655883-38655884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147926909	chr13:38655959-38655960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534762130	chr13:38656008-38656009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188846735	chr13:38656020-38656021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367590902	chr13:38656034-38656035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200374827	chr13:38656058-38656059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542524011	chr13:38656073-38656074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147208670	chr13:38656080-38656081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35869134	chr13:38656108-38656109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181370382	chr13:38656112-38656113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536903515	chr13:38656160-38656161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556851807	chr13:38656209-38656210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573630282	chr13:38656231-38656232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186166517	chr13:38656266-38656267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536014944	chr13:38656301-38656302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552793455	chr13:38656318-38656319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573247825	chr13:38656325-38656326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563629517	chr13:38656398-38656399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563902646	chr13:38656411-38656412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545493321	chr13:38656431-38656432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541822303	chr13:38656440-38656441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112418098	chr13:38656519-38656520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369828150	chr13:38656560-38656561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544545654	chr13:38656657-38656658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561550308	chr13:38656663-38656664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145641352	chr13:38656693-38656694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540826643	chr13:38656709-38656710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	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

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38654600-38659800	Weak transcription	Gastric	stomach
2	chr13:38657600-38659800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:38658600-38659000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:38659000-38660800	Weak transcription	Pancreas	Pancrea
5	chr13:38659800-38661600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:38659800-38661800	ZNF genes & repeats	Gastric	stomach
7	chr13:38660000-38661600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:38660000-38661600	ZNF genes & repeats	Ovary	ovary
9	chr13:38660200-38661600	ZNF genes & repeats	Lung	lung
10	chr13:38660200-38663000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr13:38660400-38661400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:38660600-38661600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:38660600-38661600	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr13:38660600-38661800	ZNF genes & repeats	Liver	Liver
15	chr13:38660600-38661800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
16	chr13:38660800-38661600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:38660800-38661600	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr13:38660800-38661800	ZNF genes & repeats	Pancreas	Pancrea
19	chr13:38661200-38661600	ZNF genes & repeats	Right Ventricle	heart
20	chr13:38661200-38661800	ZNF genes & repeats	Left Ventricle	heart
21	chr13:38661600-38662600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:38661600-38665200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:38661800-38664400	Weak transcription	Liver	Liver
24	chr13:38661800-38665000	Weak transcription	Pancreas	Pancrea
25	chr13:38661800-38669000	Weak transcription	Left Ventricle	heart
26	chr13:38663000-38665200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr13:38664200-38678000	Weak transcription	Psoas Muscle	Psoas
28	chr13:38665000-38665400	ZNF genes & repeats	Pancreas	Pancrea
29	chr13:38665200-38665400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:38665200-38665400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr13:38665400-38678600	Weak transcription	Pancreas	Pancrea
32	chr13:38678000-38678200	Enhancers	Psoas Muscle	Psoas
33	chr13:38678000-38678400	Weak transcription	Gastric	stomach
34	chr13:38678000-38678400	Enhancers	Left Ventricle	heart
35	chr13:38678200-38678600	ZNF genes & repeats	Aorta	Aorta
36	chr13:38678200-38678600	Enhancers	Right Ventricle	heart
37	chr13:38678400-38678800	ZNF genes & repeats	Gastric	stomach
38	chr13:38678600-38678800	ZNF genes & repeats	Pancreas	Pancrea
39	chr13:38678800-38685000	Weak transcription	Pancreas	Pancrea
40	chr13:38682400-38685400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:38684800-38685600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr13:38685000-38685200	ZNF genes & repeats	Pancreas	Pancrea
43	chr13:38685200-38685600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:38693200-38693600	Enhancers	Primary B cells from peripheral blood	blood
45	chr13:38695200-38695600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr13:38695600-38697000	Enhancers	Pancreatic Islets	Pancreatic Islet

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