Variant report

Variant	nsv1043395
Chromosome Location	chr13:64050684-64180498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-7	chr13:64159590-64159812	XLOC_010641
2	lnc-PCDH20-7	chr13:64159888-64159977	XLOC_010641

Variant related genes	Relation type
ZNF71	miRNA target sites
FUNDC2	miRNA target sites

Extended variants
information (count: 1566 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1566 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189696163	chr13:64052423-64052424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139523247	chr13:64052427-64052428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565567088	chr13:64052431-64052432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142713442	chr13:64052452-64052453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543851517	chr13:64052487-64052488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7337063	chr13:64052488-64052489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572312288	chr13:64052503-64052504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182745465	chr13:64052520-64052521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187035803	chr13:64052570-64052571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576036893	chr13:64052591-64052592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543150031	chr13:64052618-64052619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562735824	chr13:64052640-64052641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146058698	chr13:64052690-64052691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371802717	chr13:64052757-64052758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548378404	chr13:64052771-64052772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80156611	chr13:64052806-64052807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372826200	chr13:64052824-64052825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9570914	chr13:64052864-64052865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552265319	chr13:64052874-64052875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192646959	chr13:64052882-64052883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537943065	chr13:64052884-64052885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113445681	chr13:64052947-64052948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73499590	chr13:64052953-64052954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185386595	chr13:64053032-64053033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554022311	chr13:64053045-64053046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572217658	chr13:64053046-64053047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188364307	chr13:64053073-64053074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373475309	chr13:64053121-64053122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557455797	chr13:64053193-64053194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113229856	chr13:64053194-64053195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78258539	chr13:64053233-64053234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551749940	chr13:64053258-64053259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554998353	chr13:64053279-64053280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193293621	chr13:64053302-64053303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541986049	chr13:64053327-64053328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560761109	chr13:64053352-64053353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369424715	chr13:64053454-64053455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527962049	chr13:64053476-64053477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9598595	chr13:64053487-64053488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564318949	chr13:64053512-64053513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531690451	chr13:64053534-64053535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550205863	chr13:64053546-64053547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184547895	chr13:64053565-64053566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529426661	chr13:64053575-64053576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547593915	chr13:64053627-64053628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565903730	chr13:64053639-64053640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73499593	chr13:64053651-64053652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs78798845	chr13:64053666-64053667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569907969	chr13:64053709-64053710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558082072	chr13:64053731-64053732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64052400-64052800	Enhancers	Fetal Lung	lung
2	chr13:64052800-64055400	Weak transcription	Fetal Lung	lung
3	chr13:64055200-64055800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:64055200-64056000	Enhancers	Adipose Nuclei	Adipose
5	chr13:64055200-64056000	Enhancers	Osteobl	bone
6	chr13:64055200-64056200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:64055400-64055800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:64055400-64055800	Enhancers	Fetal Lung	lung
9	chr13:64055400-64055800	Enhancers	Fetal Muscle Leg	muscle
10	chr13:64055400-64056200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:64063800-64064000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:64063800-64064200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:64067400-64068200	Enhancers	NH-A	brain
14	chr13:64071200-64072600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:64075600-64076200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:64076200-64076400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:64076400-64077600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr13:64077600-64078000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr13:64086200-64086600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr13:64088000-64088200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:64088200-64089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:64089200-64089600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:64091200-64091800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:64091400-64091800	Enhancers	Osteobl	bone
25	chr13:64091400-64092000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:64091400-64092000	Enhancers	Fetal Lung	lung
27	chr13:64091600-64091800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:64092200-64092800	Enhancers	HUVEC	blood vessel
29	chr13:64098200-64098400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:64098600-64099000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:64100000-64101600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:64101600-64101800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr13:64101600-64101800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:64101800-64105000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr13:64105200-64105400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:64112600-64114200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr13:64114200-64117200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr13:64115400-64115600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr13:64115400-64115800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:64115400-64115800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr13:64115400-64115800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:64115400-64115800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr13:64115400-64116000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr13:64115400-64116000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr13:64115400-64116000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr13:64115400-64116000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr13:64115400-64116200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
48	chr13:64115600-64115800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr13:64115600-64116000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr13:64115600-64116000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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