Variant report

Variant	nsv879973
Chromosome Location	chr4:132382377-132485551
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	ATF2	chr4:132468655-132469308	GM12878	blood:	n/a	n/a
2	BACH1	chr4:132391549-132391886	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:132391570-132391880	K562	blood:	n/a	n/a
4	BATF	chr4:132469892-132470158	GM12878	blood:	n/a	chr4:132470014-132470025 chr4:132469980-132469991
5	BATF	chr4:132468793-132469303	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:132469009-132469193	GM12878	blood:	n/a	n/a
7	BCL11A	chr4:132468778-132469283	GM12878	blood:	n/a	n/a
8	BCLAF1	chr4:132468685-132469223	GM12878	blood:	n/a	n/a
9	BHLHE40	chr4:132468935-132469065	GM12878	blood:	n/a	n/a
10	CBX3	chr4:132417524-132417687	K562	blood:	n/a	n/a
11	CEBPB	chr4:132388167-132388715	IMR90	lung:	n/a	chr4:132388192-132388205 chr4:132388526-132388535 chr4:132388524-132388537 chr4:132388526-132388535 chr4:132388526-132388535 chr4:132388526-132388535 chr4:132388524-132388535
12	CEBPB	chr4:132466435-132466751	A549	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
13	CEBPB	chr4:132406135-132406462	HepG2	liver:	n/a	chr4:132406292-132406303
14	CEBPB	chr4:132404837-132405058	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr4:132466384-132466785	IMR90	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
16	CEBPB	chr4:132388438-132388648	A549	lung:	n/a	chr4:132388526-132388535 chr4:132388524-132388537 chr4:132388526-132388535 chr4:132388526-132388535 chr4:132388526-132388535 chr4:132388524-132388535
17	CEBPB	chr4:132406168-132406451	A549	lung:	n/a	chr4:132406292-132406303
18	CEBPB	chr4:132417500-132417701	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr4:132406132-132406465	ECC-1	luminal epithelium:	n/a	chr4:132406292-132406303
20	CEBPB	chr4:132420242-132420692	IMR90	lung:	n/a	n/a
21	CEBPB	chr4:132406131-132406448	IMR90	lung:	n/a	chr4:132406292-132406303
22	CEBPB	chr4:132388342-132388696	HepG2	liver:	n/a	chr4:132388526-132388535 chr4:132388524-132388537 chr4:132388526-132388535 chr4:132388526-132388535 chr4:132388526-132388535 chr4:132388524-132388535
23	CEBPB	chr4:132464778-132465054	HepG2	liver:	n/a	chr4:132464923-132464934
24	CEBPB	chr4:132406193-132406460	H1-hESC	embryonic stem cell:	n/a	chr4:132406292-132406303
25	CEBPB	chr4:132466355-132466748	HepG2	liver:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
26	CEBPB	chr4:132464782-132465069	IMR90	lung:	n/a	chr4:132464923-132464934
27	CEBPB	chr4:132388354-132388710	K562	blood:	n/a	chr4:132388526-132388535 chr4:132388524-132388537 chr4:132388526-132388535 chr4:132388526-132388535 chr4:132388526-132388535 chr4:132388524-132388535
28	CEBPB	chr4:132388460-132388619	H1-hESC	embryonic stem cell:	n/a	chr4:132388526-132388535 chr4:132388524-132388537 chr4:132388526-132388535 chr4:132388526-132388535 chr4:132388526-132388535 chr4:132388524-132388535
29	CHD2	chr4:132434674-132434726	HepG2	liver:	n/a	n/a
30	CTCF	chr4:132420740-132420890	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr4:132387980-132388130	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr4:132438800-132438950	GM12872	blood:	n/a	n/a
33	CTCF	chr4:132441967-132442092	Lung_OC	lung:	n/a	n/a
34	CTCF	chr4:132388000-132388150	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr4:132388055-132388146	GM12878	blood:	n/a	n/a
36	CTCF	chr4:132438960-132439110	GM12874	blood:	n/a	n/a
37	CTCF	chr4:132387960-132388169	GM12878	blood:	n/a	n/a
38	CTCF	chr4:132388080-132388230	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr4:132471808-132471857	Medullo	brain:	n/a	n/a
40	CTCF	chr4:132438900-132439050	NHEK	skin:	n/a	n/a
41	CTCF	chr4:132388120-132388270	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr4:132388020-132388170	RPTEC	kidney:	n/a	n/a
43	CTCF	chr4:132438900-132439050	MCF-7	breast:	n/a	n/a
44	CTCF	chr4:132461480-132461630	MCF-7	breast:	n/a	n/a
45	CTCF	chr4:132387980-132388130	HMEC	breast:	n/a	n/a
46	CTCF	chr4:132388000-132388150	HMEC	breast:	n/a	n/a
47	E2F4	chr4:132464922-132465333	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr4:132409500-132409536	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr4:132412046-132412256	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr4:132436477-132436623	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:132409731..132412260-chr4:132416731..132419042,2	K562	blood:
2	chr4:132387674..132388400-chr4:132565905..132566424,2	MCF-7	breast:
3	chr4:132409731..132412260-chr4:132416731..132419042,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-7	chr4:132407112-132407229	ENSG00000250102.1
2	lnc-PCDH10-17	chr4:132461436-132461644	NONHSAT098315
3	lnc-PCDH10-7	chr4:132448385-132448443	ENSG00000250102.1
4	lnc-PCDH10-7	chr4:132448385-132448443	ENSG00000250102.1
5	lnc-PCDH10-7	chr4:132462296-132462552	ENSG00000250102.1
6	lnc-PCDH10-7	chr4:132449215-132449276	NONHSAT098311
7	lnc-PCDH10-7	chr4:132444075-132444163	ENSG00000250102.1
8	lnc-PCDH10-7	chr4:132448385-132448443	NONHSAT098311
9	lnc-PCDH10-7	chr4:132449215-132449276	ENSG00000250102.1

Variant related genes	Relation type
ENSG00000250102	TF binding region
ENSG00000248715	TF binding region

Extended variants
information (count: 1069 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1069 , 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	rs10518597	chr4:132382377-132382378	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376259678	chr4:132382389-132382390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1473063	chr4:132391640-132391641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs558577565	chr4:132391762-132391763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569091180	chr4:132391770-132391771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150298688	chr4:132391792-132391793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371649126	chr4:132391806-132391807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192352201	chr4:132391817-132391818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554919327	chr4:132391893-132391894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574468356	chr4:132391932-132391933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139166077	chr4:132391933-132391934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562268532	chr4:132391948-132391949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577072688	chr4:132392032-132392033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575876459	chr4:132392033-132392034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs36013157	chr4:132392055-132392056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564007322	chr4:132392102-132392103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149929005	chr4:132392108-132392109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145142896	chr4:132392119-132392120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532994321	chr4:132392131-132392132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376392931	chr4:132392150-132392151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560897468	chr4:132392171-132392172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565732270	chr4:132402144-132402145	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs187343015	chr4:132402149-132402150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs557958585	chr4:132402224-132402225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs191167177	chr4:132402225-132402226	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs537383376	chr4:132402245-132402246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs545375103	chr4:132402247-132402248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs182954968	chr4:132402268-132402269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs548932721	chr4:132402707-132402708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs565515406	chr4:132402721-132402722	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs140508292	chr4:132402723-132402724	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs111968751	chr4:132402732-132402733	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs150017816	chr4:132402753-132402754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs146573450	chr4:132402763-132402764	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs537195794	chr4:132402824-132402825	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs77615360	chr4:132402861-132402862	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs141372033	chr4:132402871-132402872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs74494724	chr4:132402900-132402901	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs192704494	chr4:132402924-132402925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs553361614	chr4:132402988-132402989	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs566906498	chr4:132403878-132403879	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs114840338	chr4:132403888-132403889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs558637051	chr4:132404030-132404031	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs575305508	chr4:132404047-132404048	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs537924195	chr4:132404128-132404129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs192603625	chr4:132404138-132404139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs34002931	chr4:132404174-132404175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs540968139	chr4:132404192-132404193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs560577069	chr4:132404222-132404223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs35004078	chr4:132404273-132404274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132382200-132382400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:132391600-132392200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:132402600-132403000	Active TSS	Pancreas	Pancrea
4	chr4:132409400-132411200	Enhancers	Dnd41	blood
5	chr4:132414800-132415600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:132415600-132417200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr4:132415800-132416000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:132417200-132418200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:132417400-132420200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:132418200-132418600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:132418600-132419200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:132420200-132421200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:132420600-132421200	Enhancers	HMEC	breast
14	chr4:132420800-132421200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:132420800-132421200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:132420800-132421200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:132420800-132421200	Enhancers	HSMMtube	muscle
18	chr4:132420800-132421200	Enhancers	NH-A	brain
19	chr4:132430400-132431000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:132435400-132436200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr4:132435600-132436200	Enhancers	Dnd41	blood
22	chr4:132436200-132436600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:132436600-132437600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr4:132447600-132447800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:132447800-132452400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:132449600-132450400	Enhancers	Dnd41	blood
27	chr4:132452400-132452800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:132452800-132456000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:132453400-132453600	Enhancers	Fetal Kidney	kidney
30	chr4:132453600-132455600	Weak transcription	Fetal Kidney	kidney
31	chr4:132455600-132455800	Flanking Active TSS	Fetal Kidney	kidney
32	chr4:132455800-132456000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:132455800-132456000	Active TSS	Fetal Kidney	kidney
34	chr4:132456000-132456400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:132456000-132456400	Flanking Active TSS	Fetal Kidney	kidney
36	chr4:132456000-132457400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:132456400-132456600	Enhancers	Fetal Kidney	kidney
38	chr4:132457800-132459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:132468600-132471000	ZNF genes & repeats	GM12878-XiMat	blood
40	chr4:132471000-132472400	Weak transcription	GM12878-XiMat	blood
41	chr4:132472400-132472800	Enhancers	GM12878-XiMat	blood
42	chr4:132484400-132487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:132485400-132486000	Active TSS	Fetal Heart	heart

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