Variant report

Variant	nsv1038480
Chromosome Location	chr13:63872027-64013864
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	chr13:63955263..63957196-chr13:63958888..63961483,2	MCF-7	breast:
3	chr13:63976701..63978300-chr13:63983379..63985092,2	MCF-7	breast:
4	chr13:63976701..63978300-chr13:63983379..63985092,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 2112 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2112 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536884993	chr13:63872604-63872605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386771669	chr13:63872611-63872612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35861625	chr13:63872633-63872634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369597381	chr13:63872640-63872641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541337000	chr13:63872654-63872655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188359720	chr13:63872716-63872717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192591738	chr13:63872741-63872742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144590504	chr13:63872743-63872744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370429716	chr13:63872747-63872748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531927297	chr13:63872756-63872757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550426169	chr13:63872772-63872773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573710301	chr13:63872774-63872775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529525905	chr13:63872795-63872796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145168858	chr13:63873007-63873008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150575396	chr13:63873045-63873046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139572362	chr13:63873050-63873051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143229796	chr13:63873072-63873073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534570113	chr13:63873094-63873095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs298829	chr13:63873136-63873137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560511027	chr13:63873140-63873141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74796268	chr13:63873155-63873156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7317512	chr13:63873165-63873166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189039991	chr13:63873184-63873185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146700896	chr13:63873190-63873191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542759600	chr13:63873217-63873218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562100127	chr13:63873265-63873266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574011867	chr13:63873284-63873285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113890253	chr13:63873290-63873291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184836297	chr13:63873313-63873314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560033392	chr13:63873327-63873328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533156800	chr13:63873375-63873376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551387147	chr13:63873399-63873400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9919844	chr13:63873442-63873443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140221294	chr13:63873447-63873448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2036526	chr13:63873452-63873453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189157423	chr13:63873484-63873485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567347871	chr13:63873516-63873517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534861483	chr13:63873523-63873524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552976814	chr13:63873539-63873540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78148661	chr13:63873541-63873542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538955939	chr13:63873633-63873634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180908661	chr13:63873661-63873662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575319721	chr13:63873671-63873672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542698137	chr13:63873720-63873721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554695356	chr13:63873725-63873726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531845427	chr13:63873726-63873727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545575061	chr13:63873759-63873760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115208650	chr13:63873787-63873788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559771718	chr13:63873809-63873810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533416325	chr13:63873818-63873819	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63872600-63872800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:63873000-63873800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:63873800-63874800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:63874800-63875800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:63881000-63882400	Enhancers	Dnd41	blood
6	chr13:63881400-63882000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:63881800-63883000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr13:63882600-63883000	Active TSS	Osteobl	bone
9	chr13:63895400-63896400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr13:63896400-63897400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:63897400-63897800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr13:63897600-63898200	Enhancers	Fetal Lung	lung
13	chr13:63899800-63901200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:63901200-63901600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:63901600-63902000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:63910200-63912800	Enhancers	Dnd41	blood
17	chr13:63911000-63911400	Enhancers	Adipose Nuclei	Adipose
18	chr13:63915000-63916000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:63924800-63926000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:63924800-63926200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:63925000-63925800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:63925000-63926000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:63925200-63926000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:63925400-63925800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:63949800-63950800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:63950000-63950400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:63952200-63952800	Enhancers	Dnd41	blood
28	chr13:63954400-63956000	Enhancers	Dnd41	blood
29	chr13:63955200-63956200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:63964000-63964400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:63971000-63971200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr13:63971200-63978200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:63977800-63978400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:63978000-63978800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr13:63978200-63978400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:63978400-63978800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr13:63978400-63979000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr13:63978400-63981800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:63978800-63982600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr13:63979000-63979200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr13:63980200-63981400	Enhancers	Fetal Lung	lung
42	chr13:63980800-63981000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:63981000-63982600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:63981400-63982400	Weak transcription	Fetal Lung	lung
45	chr13:63981800-63982600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:63982000-63984000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:63982200-63983600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr13:63982400-63982600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:63982400-63982600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:63982400-63982600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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