Variant report

Variant	nsv900278
Chromosome Location	chr13:63824231-64020810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:63955263..63957196-chr13:63958888..63961483,2	MCF-7	breast:
2	chr13:63976701..63978300-chr13:63983379..63985092,2	MCF-7	breast:
3	chr13:63976701..63978300-chr13:63983379..63985092,2	MCF-7	breast:
4	chr13:63955263..63957196-chr13:63958888..63961483,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-6	chr13:63886242-63886263	XLOC_010640
2	lnc-PCDH20-6	chr13:63901377-63901488	XLOC_010640
3	lnc-PCDH20-6	chr13:63886242-63886263	XLOC_010640
4	lnc-PCDH20-6	chr13:63901377-63901488	XLOC_010640
5	lnc-PCDH20-6	chr13:63902193-63902270	XLOC_010640
6	lnc-PCDH20-6	chr13:63902187-63902270	XLOC_010640

No data

Extended variants
information (count: 2631 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2631 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373948385	chr13:63829821-63829822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs111381767	chr13:63829844-63829845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188511862	chr13:63829848-63829849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543072923	chr13:63829851-63829852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141443467	chr13:63829852-63829853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs568850054	chr13:63829905-63829906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs536238604	chr13:63829911-63829912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554316181	chr13:63829918-63829919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572849359	chr13:63829924-63829925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs367593398	chr13:63829947-63829948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533661234	chr13:63829952-63829953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs192868580	chr13:63829958-63829959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs150853534	chr13:63829959-63829960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs139235168	chr13:63830022-63830023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369595422	chr13:63830028-63830029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs563955831	chr13:63830083-63830084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs575889551	chr13:63830091-63830092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs543001878	chr13:63830092-63830093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561126463	chr13:63830094-63830095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs528543111	chr13:63830099-63830100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546792118	chr13:63830105-63830106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs565067511	chr13:63830106-63830107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532162370	chr13:63830118-63830119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs551399599	chr13:63830211-63830212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562959714	chr13:63830249-63830250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs568810962	chr13:63830252-63830253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs145366381	chr13:63830296-63830297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs35087661	chr13:63830299-63830300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs185788688	chr13:63830305-63830306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs35469898	chr13:63830316-63830317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs566362122	chr13:63830334-63830335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs533855520	chr13:63830350-63830351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs181151192	chr13:63831224-63831225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151174078	chr13:63831237-63831238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs298862	chr13:63831260-63831261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs542041518	chr13:63831295-63831296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560177670	chr13:63831304-63831305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527631965	chr13:63831317-63831318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74867446	chr13:63831323-63831324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536771492	chr13:63831327-63831328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570469097	chr13:63831365-63831366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531398450	chr13:63831394-63831395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565796261	chr13:63831401-63831402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534205406	chr13:63831405-63831406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1354478	chr13:63831442-63831443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs186293315	chr13:63831488-63831489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556674026	chr13:63831527-63831528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568183891	chr13:63831544-63831545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78141357	chr13:63831557-63831558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201578469	chr13:63831560-63831561	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63829800-63830400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:63831200-63832800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:63853000-63853200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:63853800-63854000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:63861400-63861800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:63861800-63862800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:63862200-63864800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:63862800-63863000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:63864200-63864600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:63872600-63872800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:63873000-63873800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:63873800-63874800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:63874800-63875800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:63881000-63882400	Enhancers	Dnd41	blood
15	chr13:63881400-63882000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr13:63881800-63883000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr13:63882600-63883000	Active TSS	Osteobl	bone
18	chr13:63895400-63896400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr13:63896400-63897400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr13:63897400-63897800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr13:63897600-63898200	Enhancers	Fetal Lung	lung
22	chr13:63899800-63901200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:63901200-63901600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:63901600-63902000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:63910200-63912800	Enhancers	Dnd41	blood
26	chr13:63911000-63911400	Enhancers	Adipose Nuclei	Adipose
27	chr13:63915000-63916000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:63924800-63926000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:63924800-63926200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:63925000-63925800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:63925000-63926000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:63925200-63926000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:63925400-63925800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:63949800-63950800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr13:63950000-63950400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:63952200-63952800	Enhancers	Dnd41	blood
37	chr13:63954400-63956000	Enhancers	Dnd41	blood
38	chr13:63955200-63956200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:63964000-63964400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:63971000-63971200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:63971200-63978200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:63977800-63978400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:63978000-63978800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr13:63978200-63978400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:63978400-63978800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr13:63978400-63979000	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr13:63978400-63981800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:63978800-63982600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr13:63979000-63979200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr13:63980200-63981400	Enhancers	Fetal Lung	lung

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