Variant report

Variant	nsv1040676
Chromosome Location	chr13:63778306-63837254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:63818314-63818408	HepG2	liver:	n/a	n/a
2	BACH1	chr13:63805105-63805108	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr13:63836547-63836805	HepG2	liver:	n/a	chr13:63836652-63836663
4	CEBPB	chr13:63783763-63784090	IMR90	lung:	n/a	n/a
5	CTCF	chr13:63787363-63787434	GM13976	blood:	n/a	n/a
6	CTCF	chr13:63829000-63829150	GM12874	blood:	n/a	n/a
7	CTCF	chr13:63829707-63829728	Spleen_OC	spleen:	n/a	n/a
8	E2F4	chr13:63826599-63826683	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr13:63786637-63786814	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr13:63812329-63812341	GM12878	blood:	n/a	n/a
11	EP300	chr13:63780473-63781051	SK-N-SH	brain:	n/a	n/a
12	ESR1	chr13:63814113-63814327	ECC-1	luminal epithelium:	n/a	chr13:63814219-63814236 chr13:63814220-63814237
13	FOSL2	chr13:63780618-63780936	SK-N-SH	brain:	n/a	chr13:63780798-63780808 chr13:63780798-63780808
14	FOSL2	chr13:63783475-63783848	SK-N-SH	brain:	n/a	n/a
15	FOXA2	chr13:63792180-63792567	A549	lung:	n/a	n/a
16	GATA3	chr13:63825442-63825848	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr13:63780485-63781169	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr13:63824828-63824965	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr13:63823909-63824342	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr13:63780552-63781455	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr13:63783403-63783946	SK-N-SH	brain:	n/a	n/a
22	GATA3	chr13:63783372-63784010	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr13:63820567-63820888	SH-SY5Y	brain:	n/a	chr13:63820817-63820824 chr13:63820812-63820828 chr13:63820817-63820824 chr13:63820817-63820824
24	MAFF	chr13:63795136-63795383	HepG2	liver:	n/a	n/a
25	MAFK	chr13:63795199-63795424	HepG2	liver:	n/a	n/a
26	MAFK	chr13:63807774-63808030	IMR90	lung:	n/a	n/a
27	MAFK	chr13:63795197-63795430	HepG2	liver:	n/a	n/a
28	MAFK	chr13:63804727-63804938	HepG2	liver:	n/a	n/a
29	MAFK	chr13:63807800-63808027	HepG2	liver:	n/a	n/a
30	MAX	chr13:63831781-63832145	NB4	blood:	n/a	chr13:63831838-63831848
31	MAZ	chr13:63815441-63815526	HepG2	liver:	n/a	n/a
32	MAZ	chr13:63825176-63825300	HepG2	liver:	n/a	n/a
33	MYC	chr13:63836590-63836593	NB4	blood:	n/a	n/a
34	NFYB	chr13:63807819-63808127	GM12878	blood:	n/a	n/a
35	NFYB	chr13:63807823-63808128	K562	blood:	n/a	n/a
36	PBX3	chr13:63780480-63781014	SK-N-SH	brain:	n/a	n/a
37	PBX3	chr13:63783352-63783939	SK-N-SH	brain:	n/a	n/a
38	PBX3	chr13:63780530-63780998	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr13:63802712-63802786	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr13:63778617-63778639	GM12878	blood:	n/a	n/a
41	POLR2A	chr13:63811999-63812011	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr13:63821312-63821512	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr13:63817164-63817334	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr13:63810073-63810243	GM12878	blood:	n/a	n/a
45	POLR2A	chr13:63787304-63787512	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr13:63799929-63800113	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr13:63794087-63794185	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr13:63780247-63780335	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr13:63823326-63823496	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr13:63824769-63824905	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120076978..120077828-chr13:63812850..63813372,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-5	chr13:63801112-63801189	XLOC_010639

Variant related genes	Relation type
LINC00376	TF binding region

Extended variants
information (count: 1093 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1093 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557706441	chr13:63778308-63778309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551653469	chr13:63778371-63778372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186631659	chr13:63778372-63778373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113517727	chr13:63778525-63778526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537005065	chr13:63778583-63778584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548989247	chr13:63778594-63778595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192301502	chr13:63778631-63778632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576759411	chr13:63778633-63778634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183091006	chr13:63778665-63778666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12184522	chr13:63778688-63778689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528366045	chr13:63778693-63778694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538878123	chr13:63778710-63778711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187726165	chr13:63778722-63778723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34122827	chr13:63778778-63778779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201446810	chr13:63778783-63778784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575612236	chr13:63778794-63778795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542616513	chr13:63778795-63778796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560953507	chr13:63778804-63778805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139875510	chr13:63778853-63778854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76506726	chr13:63778860-63778861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540297848	chr13:63778870-63778871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35202163	chr13:63778877-63778878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189898400	chr13:63778902-63778903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551563776	chr13:63778903-63778904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377421584	chr13:63778922-63778923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375345310	chr13:63778939-63778940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373682701	chr13:63778958-63778959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531128714	chr13:63778964-63778965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139509915	chr13:63778999-63779000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567630402	chr13:63779066-63779067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182128704	chr13:63779087-63779088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547064063	chr13:63779098-63779099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571660404	chr13:63779182-63779183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538789867	chr13:63779188-63779189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565292794	chr13:63779303-63779304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557214246	chr13:63779331-63779332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569139421	chr13:63779352-63779353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553782516	chr13:63779370-63779371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71200445	chr13:63779371-63779372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386379494	chr13:63779372-63779373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373042766	chr13:63779377-63779378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369359676	chr13:63779378-63779379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536535044	chr13:63779398-63779399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554592576	chr13:63779421-63779422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9539673	chr13:63779422-63779423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs539885949	chr13:63779446-63779447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558579267	chr13:63779471-63779472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576553329	chr13:63779492-63779493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78005225	chr13:63779518-63779519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545164955	chr13:63779533-63779534	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63774600-63783000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:63778000-63778600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr13:63780200-63782400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:63780400-63780800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:63780800-63781000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:63781200-63781600	Enhancers	Osteobl	bone
7	chr13:63781600-63783200	Weak transcription	Osteobl	bone
8	chr13:63781800-63783600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:63782400-63783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:63782800-63783200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:63783000-63783600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:63783200-63783800	Enhancers	Osteobl	bone
13	chr13:63783200-63784200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:63783400-63783600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:63783600-63788800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:63784200-63784400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:63784200-63784800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:63784600-63785800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:63784800-63785600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:63785600-63785800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr13:63787200-63787400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr13:63787400-63787800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr13:63788800-63789400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr13:63789400-63795000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:63789600-63790000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:63790000-63794800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:63792800-63793400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr13:63793000-63793600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr13:63793200-63793400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr13:63793400-63794000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr13:63793400-63795000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr13:63793600-63794800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr13:63794000-63794800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr13:63794000-63795000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr13:63794000-63796600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr13:63794200-63795600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr13:63794800-63795000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr13:63794800-63796000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:63794800-63796600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr13:63794800-63796600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr13:63795000-63795600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr13:63795000-63795800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr13:63795000-63796600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr13:63795000-63796600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr13:63795000-63796600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr13:63795600-63795800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr13:63795600-63796000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr13:63795800-63796400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr13:63796000-63796400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr13:63796400-63796600	Enhancers	H1 Cell Line	embryonic stem cell

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