Variant report

Variant	nsv900259
Chromosome Location	chr13:63103426-63197837
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:14)
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	chr13:63138713..63141263-chr13:63143724..63146149,2	K562	blood:
2	chr13:63138713..63141263-chr13:63143724..63146149,2	K562	blood:
3	chr13:63170223..63172215-chr13:63172489..63174518,2	MCF-7	breast:
4	chr13:63170223..63172215-chr13:63172489..63174518,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-4	chr13:63149147-63149417	XLOC_010409
2	lnc-PCDH20-17	chr13:63189084-63189137	l_864_chr13:63139750-63189137_testes
3	lnc-PCDH20-17	chr13:63186486-63186509	NONHSAT034147
4	lnc-AL445989.1-24	chr13:63106380-63106465	l_863_chr13:63099008-63106465_testes
5	lnc-PCDH20-2	chr13:63148448-63148472	XLOC_010636
6	lnc-PCDH20-17	chr13:63139815-63139973	NONHSAT034147
7	lnc-PCDH20-17	chr13:63159536-63159689	NONHSAT034147
8	lnc-PCDH20-17	chr13:63139816-63139967	NONHSAT034148
9	lnc-AL445989.1-4	chr13:63167377-63167507	XLOC_010409
10	lnc-PCDH20-2	chr13:63113850-63113929	XLOC_010636
11	lnc-PCDH20-2	chr13:63114022-63114201	XLOC_010636
12	lnc-PCDH20-17	chr13:63189084-63189152	NONHSAT034147
13	lnc-PCDH20-17	chr13:63139751-63139973	l_864_chr13:63139750-63189137_testes
14	lnc-AL445989.1-24	chr13:63105476-63105530	l_863_chr13:63099008-63106465_testes

No data

Extended variants
information (count: 335 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12867188	chr13:63103426-63103427	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538293267	chr13:63103427-63103428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113519520	chr13:63103458-63103459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554241486	chr13:63103472-63103473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535525335	chr13:63103474-63103475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554423520	chr13:63103486-63103487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572683659	chr13:63103492-63103493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138033826	chr13:63103541-63103542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539759288	chr13:63103577-63103578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557884176	chr13:63103600-63103601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576239751	chr13:63103619-63103620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182321836	chr13:63103620-63103621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35681681	chr13:63103625-63103626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555219402	chr13:63103656-63103657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71734625	chr13:63103697-63103698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs438428	chr13:63103784-63103785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573562182	chr13:63103799-63103800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200600719	chr13:63103829-63103830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12428777	chr13:63103834-63103835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1763904	chr13:63103838-63103839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1664118	chr13:63103868-63103869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540707744	chr13:63103901-63103902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559318901	chr13:63103903-63103904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533052760	chr13:63104025-63104026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545323106	chr13:63104034-63104035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35731651	chr13:63104051-63104052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547079388	chr13:63104077-63104078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112600549	chr13:63104088-63104089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142445017	chr13:63104109-63104110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563430125	chr13:63104318-63104319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530765240	chr13:63104320-63104321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550293318	chr13:63104408-63104409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568487523	chr13:63104413-63104414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187384112	chr13:63104434-63104435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376649499	chr13:63104443-63104444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566086758	chr13:63104468-63104469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371206626	chr13:63104706-63104707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558070880	chr13:63104719-63104720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189445097	chr13:63104765-63104766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180687106	chr13:63104790-63104791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150484295	chr13:63105482-63105483	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs372940403	chr13:63105484-63105485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs186126842	chr13:63105493-63105494	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs189979044	chr13:63105497-63105498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs553069745	chr13:63105513-63105514	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs575602135	chr13:63105526-63105527	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs535265463	chr13:63106021-63106022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546354536	chr13:63106067-63106068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116945266	chr13:63106129-63106130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148574146	chr13:63106193-63106194	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63101200-63104800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:63103200-63103600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:63106000-63107000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:63106000-63107400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:63106200-63107000	Enhancers	Gastric	stomach
6	chr13:63131600-63132400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:63167400-63168800	Enhancers	Fetal Lung	lung
8	chr13:63168800-63170200	Weak transcription	Fetal Lung	lung
9	chr13:63169800-63170400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:63170200-63170400	Enhancers	Fetal Lung	lung
11	chr13:63170400-63170800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:63170800-63171000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:63186000-63186200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr13:63187600-63187800	Enhancers	Fetal Heart	heart
15	chr13:63187800-63188200	Flanking Active TSS	Fetal Heart	heart
16	chr13:63188000-63188400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr13:63188000-63188400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:63188000-63188400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:63188200-63188800	Enhancers	Fetal Heart	heart
20	chr13:63196000-63196800	Enhancers	HUES48 Cell Line	embryonic stem cell

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