Variant report

Variant	nsv879975
Chromosome Location	chr4:132413729-132485551
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	BATF	chr4:132469892-132470158	GM12878	blood:	n/a	chr4:132470014-132470025 chr4:132469980-132469991
3	BATF	chr4:132468793-132469303	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:132469009-132469193	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:132468778-132469283	GM12878	blood:	n/a	n/a
6	BCLAF1	chr4:132468685-132469223	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:132468935-132469065	GM12878	blood:	n/a	n/a
8	CBX3	chr4:132417524-132417687	K562	blood:	n/a	n/a
9	CEBPB	chr4:132420242-132420692	IMR90	lung:	n/a	n/a
10	CEBPB	chr4:132466355-132466748	HepG2	liver:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
11	CEBPB	chr4:132464778-132465054	HepG2	liver:	n/a	chr4:132464923-132464934
12	CEBPB	chr4:132464782-132465069	IMR90	lung:	n/a	chr4:132464923-132464934
13	CEBPB	chr4:132466384-132466785	IMR90	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
14	CEBPB	chr4:132466435-132466751	A549	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
15	CEBPB	chr4:132417500-132417701	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr4:132434674-132434726	HepG2	liver:	n/a	n/a
17	CTCF	chr4:132438800-132438950	GM12872	blood:	n/a	n/a
18	CTCF	chr4:132461480-132461630	MCF-7	breast:	n/a	n/a
19	CTCF	chr4:132441967-132442092	Lung_OC	lung:	n/a	n/a
20	CTCF	chr4:132438900-132439050	MCF-7	breast:	n/a	n/a
21	CTCF	chr4:132420740-132420890	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr4:132471808-132471857	Medullo	brain:	n/a	n/a
23	CTCF	chr4:132438900-132439050	NHEK	skin:	n/a	n/a
24	CTCF	chr4:132438960-132439110	GM12874	blood:	n/a	n/a
25	E2F4	chr4:132464922-132465333	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr4:132436477-132436623	MCF10A-Er-Src	breast:	n/a	n/a
27	EP300	chr4:132468895-132469313	GM12878	blood:	n/a	n/a
28	EP300	chr4:132468844-132468994	GM12878	blood:	n/a	n/a
29	EP300	chr4:132465929-132466291	SK-N-SH_RA	brain:	n/a	chr4:132465987-132465996
30	EP300	chr4:132447215-132447297	GM12878	blood:	n/a	n/a
31	EP300	chr4:132468722-132469016	GM12878	blood:	n/a	n/a
32	EP300	chr4:132420331-132420600	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr4:132465925-132466351	SK-N-SH_RA	brain:	n/a	chr4:132465987-132465996
34	EP300	chr4:132420305-132420673	SK-N-SH_RA	brain:	n/a	n/a
35	FOS	chr4:132420314-132420874	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr4:132458831-132459154	MCF10A-Er-Src	breast:	n/a	chr4:132458991-132459002 chr4:132458994-132459003
37	FOS	chr4:132420323-132420906	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr4:132458840-132459151	MCF10A-Er-Src	breast:	n/a	chr4:132458991-132459002 chr4:132458994-132459003
39	FOS	chr4:132458907-132459155	MCF10A-Er-Src	breast:	n/a	chr4:132458991-132459002 chr4:132458994-132459003
40	FOS	chr4:132420298-132420939	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr4:132420279-132420942	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr4:132458825-132459155	MCF10A-Er-Src	breast:	n/a	chr4:132458991-132459002 chr4:132458994-132459003
43	FOSL2	chr4:132469876-132470130	HepG2	liver:	n/a	n/a
44	FOXA2	chr4:132417585-132417876	A549	lung:	n/a	n/a
45	FOXM1	chr4:132468685-132469143	GM12878	blood:	n/a	n/a
46	FOXM1	chr4:132468729-132469235	GM12878	blood:	n/a	n/a
47	GATA2	chr4:132417295-132417907	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr4:132428913-132429074	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr4:132435700-132435941	SH-SY5Y	brain:	n/a	chr4:132435851-132435872 chr4:132435854-132435870
50	IRF4	chr4:132468660-132469308	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:132409731..132412260-chr4:132416731..132419042,2	K562	blood:

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

Variant related genes	Relation type
ENSG00000248715	TF binding region

Extended variants
information (count: 925 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:925 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185159860	chr4:132414826-132414827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188425966	chr4:132414852-132414853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373214595	chr4:132414863-132414864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375883932	chr4:132414892-132414893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192827379	chr4:132414942-132414943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550386284	chr4:132414953-132414954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564717948	chr4:132414955-132414956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544998485	chr4:132414963-132414964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201354409	chr4:132414965-132414966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544106647	chr4:132414966-132414967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111759513	chr4:132414967-132414968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199710938	chr4:132414968-132414969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13143555	chr4:132415000-132415001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550218821	chr4:132415007-132415008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76786933	chr4:132415018-132415019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13143565	chr4:132415021-132415022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs70948120	chr4:132415022-132415023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74317066	chr4:132415023-132415024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184186879	chr4:132415057-132415058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576355486	chr4:132415059-132415060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529536071	chr4:132415066-132415067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77634384	chr4:132415084-132415085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188858859	chr4:132415136-132415137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533686098	chr4:132415185-132415186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553403259	chr4:132415219-132415220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570321864	chr4:132415257-132415258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539584445	chr4:132415280-132415281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150600329	chr4:132415292-132415293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576314449	chr4:132415303-132415304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541744093	chr4:132415320-132415321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78550938	chr4:132415339-132415340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180841948	chr4:132415343-132415344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541542903	chr4:132415379-132415380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564533439	chr4:132415426-132415427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72941465	chr4:132415437-132415438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139620846	chr4:132415467-132415468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183915627	chr4:132415500-132415501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189360116	chr4:132415512-132415513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549406757	chr4:132415518-132415519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182186080	chr4:132415526-132415527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567719552	chr4:132415540-132415541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186815477	chr4:132415564-132415565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149564020	chr4:132415599-132415600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570184027	chr4:132415622-132415623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs146048444	chr4:132415681-132415682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs72941467	chr4:132415766-132415767	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569709469	chr4:132415772-132415773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555538847	chr4:132415778-132415779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs575252103	chr4:132415784-132415785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs191603862	chr4:132415801-132415802	ZNF genes & repeats	n/a	n/a	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:39 , 50 per page) page: 1

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

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