Variant report

Variant	nsv900387
Chromosome Location	chr13:66725708-66863184
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	chr13:66784968-66784973	HepG2	liver:	n/a	n/a
2	ATF2	chr13:66798630-66799137	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr13:66798756-66799093	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr13:66798709-66799125	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr13:66739043-66739104	K562	blood:	n/a	n/a
6	CBX3	chr13:66784811-66785347	HCT-116	colon:	n/a	n/a
7	CBX3	chr13:66861033-66861253	K562	blood:	n/a	n/a
8	CBX3	chr13:66784784-66785224	HCT-116	colon:	n/a	n/a
9	CEBPB	chr13:66725831-66726069	A549	lung:	n/a	n/a
10	CEBPB	chr13:66797170-66797323	A549	lung:	n/a	n/a
11	CEBPB	chr13:66761526-66761756	A549	lung:	n/a	chr13:66761619-66761630 chr13:66761695-66761706 chr13:66761695-66761706 chr13:66761619-66761632 chr13:66761620-66761631
12	CEBPB	chr13:66730739-66730923	K562	blood:	n/a	chr13:66730790-66730803 chr13:66730790-66730803 chr13:66730790-66730801
13	CEBPB	chr13:66763335-66763507	HepG2	liver:	n/a	chr13:66763421-66763432
14	CEBPB	chr13:66840059-66840240	HepG2	liver:	n/a	chr13:66840131-66840144 chr13:66840121-66840133
15	CEBPB	chr13:66784768-66785232	IMR90	lung:	n/a	n/a
16	CEBPB	chr13:66761567-66761739	HepG2	liver:	n/a	chr13:66761619-66761630 chr13:66761695-66761706 chr13:66761695-66761706 chr13:66761619-66761632 chr13:66761620-66761631
17	CEBPB	chr13:66840058-66840316	IMR90	lung:	n/a	chr13:66840131-66840144 chr13:66840121-66840133
18	CEBPB	chr13:66811924-66811972	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr13:66763347-66763581	A549	lung:	n/a	chr13:66763421-66763432
20	CEBPB	chr13:66808370-66808515	HepG2	liver:	n/a	chr13:66808482-66808493
21	CEBPB	chr13:66730664-66730902	IMR90	lung:	n/a	chr13:66730790-66730803 chr13:66730790-66730803 chr13:66730790-66730801
22	CEBPB	chr13:66784870-66785094	A549	lung:	n/a	n/a
23	CEBPB	chr13:66784693-66785274	HCT-116	colon:	n/a	n/a
24	CEBPB	chr13:66808314-66808671	HepG2	liver:	n/a	chr13:66808482-66808493
25	CEBPB	chr13:66725833-66726111	HepG2	liver:	n/a	n/a
26	CEBPB	chr13:66798751-66799318	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr13:66798730-66799172	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr13:66839540-66839690	HAc	cerebellar:	n/a	n/a
29	CTCF	chr13:66839680-66839830	RPTEC	kidney:	n/a	n/a
30	CTCF	chr13:66774800-66774950	AG04449	skin:	n/a	n/a
31	CTCF	chr13:66796971-66797004	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr13:66774740-66774890	RPTEC	kidney:	n/a	n/a
33	CTCF	chr13:66774821-66774976	ProgFib	skin:	n/a	n/a
34	CTCF	chr13:66811940-66812090	HRPEpiC	eye:	n/a	chr13:66812040-66812061 chr13:66812038-66812056
35	CTCF	chr13:66839640-66839790	HRE	kidney:	n/a	n/a
36	CTCF	chr13:66774823-66774966	MCF-7	breast:	n/a	n/a
37	CTCF	chr13:66735218-66735248	Lung_OC	lung:	n/a	n/a
38	CTCF	chr13:66839600-66839750	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr13:66752560-66752577	Lung_OC	lung:	n/a	n/a
40	CTCF	chr13:66845301-66845394	LNCaP	prostate:	n/a	n/a
41	CTCF	chr13:66802671-66802708	Lung_OC	lung:	n/a	n/a
42	CTCF	chr13:66774800-66774950	HPF	lung:	n/a	n/a
43	CTCF	chr13:66811980-66812130	RPTEC	kidney:	n/a	chr13:66812040-66812061 chr13:66812038-66812056
44	CTCF	chr13:66811920-66812070	Caco-2	colon:	n/a	chr13:66812040-66812061 chr13:66812038-66812056
45	CTCF	chr13:66774780-66774930	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr13:66736466-66736597	GM20000	blood:	n/a	n/a
47	CTCF	chr13:66792998-66793035	Medullo	brain:	n/a	n/a
48	CTCF	chr13:66774780-66774930	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr13:66807780-66807930	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr13:66774840-66774990	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:66782802..66785217-chr13:66787154..66788780,2	MCF-7	breast:
2	chr13:66725373..66727381-chr13:66728791..66730521,2	K562	blood:
3	chr13:66824109..66824810-chr16:71735977..71736631,2	MCF-7	breast:
4	chr13:66725373..66727381-chr13:66728791..66730521,2	K562	blood:
5	chr13:66782802..66785217-chr13:66787154..66788780,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH9-1	chr13:66805874-66806206	ENSG00000250631
2	lnc-AL445989.1-26	chr13:66844520-66844603	NONHSAT034208
3	lnc-AL445989.1-26	chr13:66843129-66844590	NONHSAT034207
4	lnc-AL445989.1-26	chr13:66846998-66847098	NONHSAT034208
5	lnc-AL445989.1-26	chr13:66851684-66852109	NONHSAT034208

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4704-3p	chr13:66792428-66792449	MIMAT0019804
hsa-miR-4704-5p	chr13:66792391-66792412	MIMAT0019803

Variant related genes	Relation type
MIR4704	TF binding region
TRIM60P19	TF binding region

Extended variants
information (count: 2432 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2432 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546427734	chr13:66728209-66728210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190341364	chr13:66728291-66728292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568992032	chr13:66728313-66728314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558347866	chr13:66728347-66728348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537904664	chr13:66728411-66728412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554612365	chr13:66728460-66728461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568016063	chr13:66728495-66728496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533890599	chr13:66728496-66728497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554027374	chr13:66728547-66728548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577001513	chr13:66728549-66728550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545957134	chr13:66728609-66728610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182596485	chr13:66728709-66728710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576145395	chr13:66728737-66728738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201451770	chr13:66728842-66728843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17080843	chr13:66728848-66728849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs59299841	chr13:66728901-66728902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527668689	chr13:66728916-66728917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184365718	chr13:66728963-66728964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564779523	chr13:66728976-66728977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533428272	chr13:66729044-66729045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560399836	chr13:66729071-66729072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570221197	chr13:66729100-66729101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199868629	chr13:66729134-66729135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531435336	chr13:66729135-66729136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548305825	chr13:66729183-66729184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568105159	chr13:66729212-66729213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533770375	chr13:66729269-66729270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148952406	chr13:66729276-66729277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371867603	chr13:66729283-66729284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570746093	chr13:66729290-66729291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114137288	chr13:66729294-66729295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3903773	chr13:66729374-66729375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575827653	chr13:66729406-66729407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541959262	chr13:66729418-66729419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369574317	chr13:66729429-66729430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373129542	chr13:66729490-66729491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561812506	chr13:66729524-66729525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145483365	chr13:66729549-66729550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564507846	chr13:66729571-66729572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368790231	chr13:66729579-66729580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370001139	chr13:66729600-66729601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147714203	chr13:66729624-66729625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531733696	chr13:66729855-66729856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550336458	chr13:66729893-66729894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533684994	chr13:66729927-66729928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200838278	chr13:66729933-66729934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543708988	chr13:66729971-66729972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573566256	chr13:66729981-66729982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373711920	chr13:66729990-66729991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577184082	chr13:66730003-66730004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66728200-66731000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:66728400-66728800	Enhancers	A549	lung
3	chr13:66728400-66729800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:66728600-66729800	Enhancers	HUVEC	blood vessel
5	chr13:66729200-66729600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:66729200-66729600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:66729200-66729600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:66729200-66729600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:66729200-66729600	Enhancers	HSMM	muscle
10	chr13:66729200-66729800	Enhancers	Dnd41	blood
11	chr13:66729200-66731000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:66729200-66731000	Enhancers	Osteobl	bone
13	chr13:66729600-66730600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:66729800-66730200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:66730200-66730800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:66730800-66731000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:66733400-66733800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr13:66733600-66734000	Enhancers	Primary B cells from peripheral blood	blood
19	chr13:66733800-66737400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr13:66736400-66737600	Enhancers	Dnd41	blood
21	chr13:66736600-66737200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:66737200-66737600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr13:66737400-66737600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr13:66737600-66737800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:66737800-66738800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:66738800-66739200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:66739200-66739600	Active TSS	K562	blood
28	chr13:66746000-66746400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:66755000-66755400	Enhancers	Aorta	Aorta
30	chr13:66755800-66756400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr13:66764400-66765200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:66774800-66775200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:66780600-66781000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:66781000-66781400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:66781200-66781600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr13:66781400-66782400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:66781600-66782000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr13:66782000-66782200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr13:66782200-66782400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:66782200-66785000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr13:66782400-66783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:66782400-66784400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:66783200-66783600	Enhancers	Rectal Smooth Muscle	rectum
44	chr13:66783400-66784600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:66784000-66785000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:66784400-66784600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr13:66784400-66784800	Enhancers	A549	lung
48	chr13:66784400-66785000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:66784400-66785600	Enhancers	NHDF-Ad	bronchial
50	chr13:66784400-66785800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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