Variant report

Variant	nsv900277
Chromosome Location	chr13:63666149-63892905
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	chr13:63740419-63740523	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:63818314-63818408	HepG2	liver:	n/a	n/a
3	ATF2	chr13:63758870-63759176	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr13:63666693-63666916	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr13:63805105-63805108	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr13:63778099-63778105	GM12878	blood:	n/a	n/a
7	CEBPB	chr13:63845846-63845938	HepG2	liver:	n/a	chr13:63845885-63845896 chr13:63845859-63845870
8	CEBPB	chr13:63773680-63773782	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr13:63733024-63733236	HepG2	liver:	n/a	chr13:63733111-63733122
10	CEBPB	chr13:63711555-63711746	H1-hESC	embryonic stem cell:	n/a	chr13:63711684-63711695
11	CEBPB	chr13:63764919-63765289	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr13:63836547-63836805	HepG2	liver:	n/a	chr13:63836652-63836663
13	CEBPB	chr13:63890189-63890396	HepG2	liver:	n/a	chr13:63890293-63890304
14	CEBPB	chr13:63773594-63773780	HepG2	liver:	n/a	n/a
15	CEBPB	chr13:63758997-63759239	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr13:63878731-63878920	K562	blood:	n/a	chr13:63878814-63878825
17	CEBPB	chr13:63874168-63874497	IMR90	lung:	n/a	n/a
18	CEBPB	chr13:63773504-63773772	IMR90	lung:	n/a	chr13:63773593-63773604
19	CEBPB	chr13:63722264-63722588	HepG2	liver:	n/a	chr13:63722425-63722436
20	CEBPB	chr13:63878639-63878883	Hela-S3	cervix:	n/a	chr13:63878814-63878825
21	CEBPB	chr13:63772326-63772639	IMR90	lung:	n/a	n/a
22	CEBPB	chr13:63695761-63695996	HepG2	liver:	n/a	chr13:63695904-63695915
23	CEBPB	chr13:63740261-63740628	IMR90	lung:	n/a	chr13:63740443-63740452 chr13:63740441-63740454 chr13:63740441-63740452
24	CEBPB	chr13:63776742-63776947	A549	lung:	n/a	n/a
25	CEBPB	chr13:63890159-63890458	IMR90	lung:	n/a	chr13:63890293-63890304
26	CEBPB	chr13:63876910-63877282	IMR90	lung:	n/a	chr13:63877183-63877196 chr13:63877185-63877194 chr13:63876960-63876973 chr13:63877183-63877194 chr13:63877185-63877194 chr13:63877185-63877194 chr13:63877185-63877194
27	CEBPB	chr13:63695754-63695954	K562	blood:	n/a	chr13:63695904-63695915
28	CEBPB	chr13:63890177-63890383	H1-hESC	embryonic stem cell:	n/a	chr13:63890293-63890304
29	CEBPB	chr13:63869741-63870047	HepG2	liver:	n/a	chr13:63869907-63869918 chr13:63869907-63869920
30	CEBPB	chr13:63711527-63711846	HepG2	liver:	n/a	chr13:63711684-63711695
31	CEBPB	chr13:63711510-63711861	IMR90	lung:	n/a	chr13:63711684-63711695
32	CEBPB	chr13:63783763-63784090	IMR90	lung:	n/a	n/a
33	CEBPB	chr13:63878620-63878978	IMR90	lung:	n/a	chr13:63878814-63878825
34	CEBPB	chr13:63869759-63870039	IMR90	lung:	n/a	chr13:63869907-63869918 chr13:63869907-63869920
35	CEBPB	chr13:63878680-63878955	A549	lung:	n/a	chr13:63878814-63878825
36	CEBPB	chr13:63878657-63878957	HepG2	liver:	n/a	chr13:63878814-63878825
37	CEBPB	chr13:63862840-63863259	IMR90	lung:	n/a	n/a
38	CEBPB	chr13:63839881-63840177	HepG2	liver:	n/a	n/a
39	CEBPB	chr13:63681234-63681693	IMR90	lung:	n/a	n/a
40	CEBPB	chr13:63740269-63740585	HepG2	liver:	n/a	chr13:63740443-63740452 chr13:63740441-63740454 chr13:63740441-63740452
41	CEBPB	chr13:63703235-63703442	HepG2	liver:	n/a	chr13:63703327-63703338 chr13:63703326-63703337
42	CHD1	chr13:63731225-63731227	GM12878	blood:	n/a	n/a
43	CHD2	chr13:63741881-63742326	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr13:63758862-63759125	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr13:63758905-63759282	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr13:63758924-63759192	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr13:63699174-63699201	K562	blood:	n/a	chr13:63699189-63699196
48	CTCF	chr13:63699160-63699310	GM12875	blood:	n/a	chr13:63699189-63699196 chr13:63699186-63699202 chr13:63699187-63699208 chr13:63699185-63699203
49	CTCF	chr13:63699100-63699250	AG09309	skin:	n/a	chr13:63699189-63699196 chr13:63699186-63699202 chr13:63699187-63699208 chr13:63699185-63699203
50	CTCF	chr13:63699016-63699367	GM12878	blood:	n/a	chr13:63699189-63699196 chr13:63699186-63699202 chr13:63699187-63699208 chr13:63699185-63699203

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:63663754..63665958-chr13:63668093..63670026,2	K562	blood:
2	chr12:120076978..120077828-chr13:63812850..63813372,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-6	chr13:63886242-63886263	XLOC_010640
2	lnc-AL445989.1-3	chr13:63671472-63671829	NONHSAT034157
3	lnc-PCDH20-6	chr13:63886242-63886263	XLOC_010640
4	lnc-PCDH20-5	chr13:63757234-63757461	XLOC_010639
5	lnc-PCDH20-5	chr13:63801112-63801189	XLOC_010639
6	lnc-AL445989.1-3	chr13:63671473-63671829	XLOC_010410
7	lnc-PCDH20-5	chr13:63768623-63768664	XLOC_010639

Variant related genes	Relation type
LINC00376	TF binding region
PHF14	miRNA target sites

Extended variants
information (count: 3121 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3121 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377381402	chr13:63666602-63666603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193068830	chr13:63666666-63666667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576766763	chr13:63666678-63666679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539045355	chr13:63666683-63666684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73201260	chr13:63666722-63666723	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576024508	chr13:63666772-63666773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138332965	chr13:63666837-63666838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556750950	chr13:63666884-63666885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575086768	chr13:63666888-63666889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542483227	chr13:63666911-63666912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71200435	chr13:63666931-63666932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386379490	chr13:63666934-63666935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560607492	chr13:63666937-63666938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376200508	chr13:63666940-63666941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375306949	chr13:63666975-63666976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200290746	chr13:63667036-63667037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184531804	chr13:63667052-63667053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545851564	chr13:63667073-63667074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3106423	chr13:63667082-63667083	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs78100324	chr13:63667164-63667165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549866062	chr13:63667214-63667215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568259831	chr13:63667223-63667224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530169056	chr13:63667300-63667301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547222488	chr13:63667316-63667317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565812510	chr13:63667343-63667344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3095591	chr13:63667366-63667367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs557429649	chr13:63667427-63667428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188037639	chr13:63667433-63667434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367670566	chr13:63667476-63667477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147305712	chr13:63667500-63667501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77998845	chr13:63667585-63667586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555492372	chr13:63667599-63667600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140795372	chr13:63667600-63667601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573814837	chr13:63667608-63667609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372039021	chr13:63667610-63667611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536037322	chr13:63667625-63667626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181204122	chr13:63667672-63667673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2221899	chr13:63667699-63667700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183824609	chr13:63667738-63667739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs992263	chr13:63667797-63667798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147454243	chr13:63667897-63667898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372884217	chr13:63667947-63667948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188502329	chr13:63668007-63668008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576024295	chr13:63668045-63668046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543448642	chr13:63668094-63668095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567648751	chr13:63668110-63668111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372663545	chr13:63668111-63668112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34527914	chr13:63668126-63668127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115200515	chr13:63668149-63668150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9570784	chr13:63668152-63668153	Enhancers	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:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63666600-63668200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr13:63667600-63668200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:63667600-63668200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:63668000-63668400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:63670800-63672400	Enhancers	Dnd41	blood
6	chr13:63672000-63672200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:63672200-63673600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr13:63672400-63673600	Weak transcription	Dnd41	blood
9	chr13:63673600-63674000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr13:63673600-63674200	Enhancers	Dnd41	blood
11	chr13:63674000-63674200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr13:63674400-63674600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr13:63681200-63682000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:63682000-63684400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:63684400-63685000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:63684600-63685200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:63685000-63685200	Enhancers	Pancreas	Pancrea
18	chr13:63698600-63698800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:63698800-63703400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:63699600-63701000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr13:63699800-63700200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:63699800-63700800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:63699800-63701800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr13:63699800-63701800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr13:63700000-63701600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr13:63700200-63701200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:63700200-63706600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:63700400-63700800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr13:63700400-63701000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr13:63700600-63701000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr13:63700600-63701200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr13:63701000-63704800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:63701800-63702200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:63703200-63704600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:63703400-63703800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:63703800-63704000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:63704000-63704600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:63704000-63704800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:63704400-63704600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr13:63704800-63705200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr13:63712200-63712800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr13:63712800-63713200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr13:63713200-63713600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:63713200-63713600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr13:63720200-63720400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:63720400-63720800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:63720800-63721000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:63729600-63730000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:63735200-63735600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:63735200-63735600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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