Variant report

Variant	nsv879977
Chromosome Location	chr4:132456731-132595111
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	ATF2	chr4:132534989-132535386	GM12878	blood:	n/a	n/a
3	BATF	chr4:132584215-132584596	GM12878	blood:	n/a	n/a
4	BATF	chr4:132579445-132580058	GM12878	blood:	n/a	n/a
5	BATF	chr4:132468793-132469303	GM12878	blood:	n/a	n/a
6	BATF	chr4:132584050-132584633	GM12878	blood:	n/a	n/a
7	BATF	chr4:132469892-132470158	GM12878	blood:	n/a	chr4:132470014-132470025 chr4:132469980-132469991
8	BATF	chr4:132579714-132580021	GM12878	blood:	n/a	n/a
9	BCL11A	chr4:132584212-132584619	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:132579674-132579989	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:132584240-132584512	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:132469009-132469193	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:132579505-132580074	GM12878	blood:	n/a	n/a
14	BCL11A	chr4:132468778-132469283	GM12878	blood:	n/a	n/a
15	BCLAF1	chr4:132468685-132469223	GM12878	blood:	n/a	n/a
16	BHLHE40	chr4:132534939-132535181	GM12878	blood:	n/a	n/a
17	BHLHE40	chr4:132468935-132469065	GM12878	blood:	n/a	n/a
18	CEBPB	chr4:132531615-132532170	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr4:132464778-132465054	HepG2	liver:	n/a	chr4:132464923-132464934
20	CEBPB	chr4:132531759-132532044	IMR90	lung:	n/a	n/a
21	CEBPB	chr4:132516303-132516638	A549	lung:	n/a	chr4:132516490-132516501
22	CEBPB	chr4:132505792-132506151	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr4:132464782-132465069	IMR90	lung:	n/a	chr4:132464923-132464934
24	CEBPB	chr4:132516323-132516647	HepG2	liver:	n/a	chr4:132516490-132516501
25	CEBPB	chr4:132466355-132466748	HepG2	liver:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
26	CEBPB	chr4:132516327-132516658	K562	blood:	n/a	chr4:132516490-132516501
27	CEBPB	chr4:132466384-132466785	IMR90	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
28	CEBPB	chr4:132516266-132516683	IMR90	lung:	n/a	chr4:132516490-132516501
29	CEBPB	chr4:132505940-132505989	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr4:132516355-132516626	H1-hESC	embryonic stem cell:	n/a	chr4:132516490-132516501
31	CEBPB	chr4:132466435-132466751	A549	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
32	CHD2	chr4:132531765-132531965	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr4:132565960-132566110	GM12872	blood:	n/a	n/a
34	CTCF	chr4:132590926-132590937	GM10248	blood:	n/a	n/a
35	CTCF	chr4:132565920-132566070	AG04450	lung:	n/a	n/a
36	CTCF	chr4:132565885-132566097	Medullo	brain:	n/a	n/a
37	CTCF	chr4:132565852-132566113	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr4:132565944-132566039	GM20000	blood:	n/a	n/a
39	CTCF	chr4:132565875-132566048	A549	lung:	n/a	n/a
40	CTCF	chr4:132565880-132566030	HEK293	kidney:	n/a	n/a
41	CTCF	chr4:132504040-132504190	BE2_C	brain:	n/a	n/a
42	CTCF	chr4:132504240-132504390	NHEK	skin:	n/a	n/a
43	CTCF	chr4:132565900-132566050	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr4:132565911-132566052	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr4:132565900-132566050	HEK293	kidney:	n/a	n/a
46	CTCF	chr4:132565840-132565990	WI-38	lung:	n/a	n/a
47	CTCF	chr4:132565920-132566070	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr4:132565840-132565990	HCT-116	colon:	n/a	n/a
49	CTCF	chr4:132565900-132566050	MCF-7	breast:	n/a	n/a
50	CTCF	chr4:132565960-132566110	GM12874	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:15257912..15258445-chr4:132538874..132539729,2	MCF-7	breast:
2	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:
3	chr4:132495865..132498860-chr4:132534309..132536542,2	K562	blood:
4	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:
5	chr4:132495865..132498860-chr4:132534309..132536542,2	K562	blood:
6	chr4:132012841..132013396-chr4:132565892..132566443,2	MCF-7	breast:
7	chr4:132387674..132388400-chr4:132565905..132566424,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-7	chr4:132462296-132462552	ENSG00000250102.1
2	lnc-PCDH10-17	chr4:132461436-132461644	NONHSAT098315

Variant related genes	Relation type
ENSG00000248715	TF binding region

Extended variants
information (count: 2007 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2007 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13108048	chr4:132456731-132456732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548722847	chr4:132456772-132456773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115300483	chr4:132456907-132456908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534415563	chr4:132456926-132456927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74589639	chr4:132456930-132456931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571162972	chr4:132456953-132456954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188958243	chr4:132456964-132456965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567825091	chr4:132456968-132456969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113122544	chr4:132456977-132456978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191586	chr4:132456999-132457000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574913172	chr4:132457018-132457019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs350950	chr4:132457021-132457022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181716972	chr4:132457038-132457039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554656715	chr4:132457048-132457049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543317586	chr4:132457078-132457079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183018	chr4:132457094-132457095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374147097	chr4:132457101-132457102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535866093	chr4:132457116-132457117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540469407	chr4:132457126-132457127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35106641	chr4:132457137-132457138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs398051280	chr4:132457157-132457158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397756333	chr4:132457178-132457179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532475024	chr4:132457189-132457190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34032123	chr4:132457221-132457222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78554447	chr4:132457324-132457325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60303282	chr4:132457325-132457326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76461211	chr4:132457326-132457327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76091811	chr4:132457343-132457344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375438861	chr4:132457345-132457346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546100982	chr4:132457355-132457356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1548157	chr4:132457822-132457823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569972321	chr4:132457867-132457868	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs189971775	chr4:132457874-132457875	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs77888913	chr4:132457886-132457887	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs535238983	chr4:132457905-132457906	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs542667174	chr4:132457908-132457909	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs533637498	chr4:132457968-132457969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6857192	chr4:132458060-132458061	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs17051215	chr4:132458070-132458071	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545987101	chr4:132458089-132458090	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs576353666	chr4:132458142-132458143	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs1849156	chr4:132458159-132458160	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542247260	chr4:132458198-132458199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561917770	chr4:132458239-132458240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372687831	chr4:132458269-132458270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141394152	chr4:132458352-132458353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570248948	chr4:132458379-132458380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564566700	chr4:132458399-132458400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533357423	chr4:132458457-132458458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549914971	chr4:132458490-132458491	Enhancers	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132456000-132457400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:132457800-132459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:132468600-132471000	ZNF genes & repeats	GM12878-XiMat	blood
4	chr4:132471000-132472400	Weak transcription	GM12878-XiMat	blood
5	chr4:132472400-132472800	Enhancers	GM12878-XiMat	blood
6	chr4:132484400-132487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:132485400-132486000	Active TSS	Fetal Heart	heart
8	chr4:132487000-132487800	Enhancers	HMEC	breast
9	chr4:132487000-132488000	Enhancers	NHEK	skin
10	chr4:132487200-132487600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:132487400-132487800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:132487400-132488000	Enhancers	Pancreas	Pancrea
13	chr4:132487800-132491600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:132488000-132488400	Weak transcription	Pancreas	Pancrea
15	chr4:132488400-132488800	Enhancers	Pancreas	Pancrea
16	chr4:132504600-132506200	ZNF genes & repeats	Dnd41	blood
17	chr4:132505000-132505400	Enhancers	NHEK	skin
18	chr4:132505000-132505800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:132505000-132506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:132505000-132506200	Enhancers	HMEC	breast
21	chr4:132505200-132505800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:132505400-132505800	Enhancers	Esophagus	oesophagus
23	chr4:132505400-132505800	Flanking Active TSS	NHEK	skin
24	chr4:132505800-132506600	Enhancers	NHEK	skin
25	chr4:132505800-132508400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:132506000-132506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:132506400-132506600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:132506600-132525800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:132524600-132526000	Enhancers	NHEK	skin
30	chr4:132524800-132526000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:132524800-132526200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:132525800-132526600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:132525800-132526800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:132526000-132531200	Weak transcription	NHEK	skin
35	chr4:132526000-132533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:132526200-132526600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:132526600-132526800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:132526800-132529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:132526800-132530800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:132529400-132529800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:132529800-132530400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:132530200-132530600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:132530200-132532600	Enhancers	HMEC	breast
44	chr4:132530200-132532600	Enhancers	HUVEC	blood vessel
45	chr4:132530400-132532600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:132530600-132531600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:132530800-132532200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:132531200-132532600	Enhancers	NHEK	skin
49	chr4:132531600-132532200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:132531600-132532200	Enhancers	Hela-S3	cervix

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