Variant report

Variant	nsv428772
Chromosome Location	chr4:132105279-132262098
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	chr4:132230758-132231240	GM12878	blood:	n/a	n/a
2	ATF3	chr4:132179544-132179772	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:132142159-132142343	K562	blood:	n/a	n/a
4	BACH1	chr4:132164565-132164579	K562	blood:	n/a	n/a
5	BACH1	chr4:132150946-132150962	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr4:132237834-132237865	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr4:132230793-132231130	GM12878	blood:	n/a	chr4:132230925-132230936
8	BATF	chr4:132237297-132237506	GM12878	blood:	n/a	chr4:132237434-132237445
9	BATF	chr4:132230807-132231142	GM12878	blood:	n/a	chr4:132230925-132230936
10	BCL11A	chr4:132178410-132178696	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:132178348-132178643	GM12878	blood:	n/a	chr4:132178369-132178378
12	BCL11A	chr4:132230818-132231127	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:132128800-132129079	HepG2	liver:	n/a	n/a
14	BHLHE40	chr4:132178402-132178703	GM12878	blood:	n/a	n/a
15	CBX3	chr4:132209558-132210022	HCT-116	colon:	n/a	n/a
16	CCNT2	chr4:132205064-132205471	K562	blood:	n/a	n/a
17	CEBPB	chr4:132110833-132110991	H1-hESC	embryonic stem cell:	n/a	chr4:132110945-132110956
18	CEBPB	chr4:132184264-132184515	HepG2	liver:	n/a	chr4:132184363-132184376 chr4:132184363-132184374 chr4:132184365-132184376
19	CEBPB	chr4:132110910-132111006	A549	lung:	n/a	chr4:132110945-132110956
20	CEBPB	chr4:132179496-132179815	ECC-1	luminal epithelium:	n/a	chr4:132179698-132179709
21	CEBPB	chr4:132179525-132179882	H1-hESC	embryonic stem cell:	n/a	chr4:132179698-132179709
22	CEBPB	chr4:132179607-132179807	HepG2	liver:	n/a	chr4:132179698-132179709
23	CEBPB	chr4:132246562-132246885	IMR90	lung:	n/a	chr4:132246745-132246756
24	CEBPB	chr4:132246573-132246902	HepG2	liver:	n/a	chr4:132246745-132246756
25	CEBPB	chr4:132179571-132179733	A549	lung:	n/a	chr4:132179698-132179709
26	CEBPB	chr4:132179537-132179884	ECC-1	luminal epithelium:	n/a	chr4:132179698-132179709
27	CEBPB	chr4:132123840-132124091	HepG2	liver:	n/a	chr4:132123973-132123984 chr4:132123975-132123986
28	CEBPB	chr4:132246621-132246930	K562	blood:	n/a	chr4:132246745-132246756
29	CEBPB	chr4:132110801-132111048	HepG2	liver:	n/a	chr4:132110945-132110956
30	CTCF	chr4:132223299-132223432	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr4:132223440-132223590	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr4:132223331-132223407	MCF-7	breast:	n/a	n/a
33	CTCF	chr4:132223355-132223722	MCF-7	breast:	n/a	n/a
34	CTCF	chr4:132125500-132125650	GM12878	blood:	n/a	n/a
35	CTCF	chr4:132223500-132223650	MCF-7	breast:	n/a	n/a
36	CTCF	chr4:132223460-132223610	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr4:132223519-132223621	MCF-7	breast:	n/a	n/a
38	CTCF	chr4:132223534-132223633	MCF-7	breast:	n/a	n/a
39	CTCF	chr4:132155660-132155810	HepG2	liver:	n/a	n/a
40	CTCF	chr4:132223400-132223550	A549	lung:	n/a	n/a
41	CTCF	chr4:132223496-132223583	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr4:132223437-132223641	MCF-7	breast:	n/a	n/a
43	CTCF	chr4:132223420-132223570	GM12865	blood:	n/a	n/a
44	CTCF	chr4:132159760-132159910	GM12867	blood:	n/a	n/a
45	CTCF	chr4:132168475-132168509	Lung_OC	lung:	n/a	n/a
46	CTCF	chr4:132122180-132122211	LNCaP	prostate:	n/a	n/a
47	CTCF	chr4:132223480-132223630	MCF-7	breast:	n/a	n/a
48	CTCF	chr4:132223375-132223719	GM12878	blood:	n/a	n/a
49	CTCF	chr4:132223440-132223590	GM12865	blood:	n/a	n/a
50	CTCF	chr4:132223480-132223630	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:132208528..132210188-chr4:132213412..132215740,2	MCF-7	breast:
2	chr4:132122573..132124807-chr4:132127097..132129962,3	MCF-7	breast:
3	chr4:132252754..132254764-chr4:132258466..132259992,2	K562	blood:
4	chr4:132149758..132152174-chr4:132152925..132155789,2	MCF-7	breast:
5	chr4:132252754..132254764-chr4:132258466..132259992,2	K562	blood:
6	chr4:132208528..132210188-chr4:132213412..132215740,2	MCF-7	breast:
7	chr4:132122573..132124807-chr4:132127097..132129962,3	MCF-7	breast:
8	chr4:132149758..132152174-chr4:132152925..132155789,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-224P	TF binding region

Extended variants
information (count: 796 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561477503	chr4:132110848-132110849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs655295	chr4:132110866-132110867	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186597430	chr4:132110867-132110868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543958384	chr4:132110877-132110878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs192383359	chr4:132110919-132110920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs139447888	chr4:132110989-132110990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183784820	chr4:132110992-132110993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs560265183	chr4:132111001-132111002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532585995	chr4:132111023-132111024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552379922	chr4:132111026-132111027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563356089	chr4:132111028-132111029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77531898	chr4:132111060-132111061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76712623	chr4:132111061-132111062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568683357	chr4:132111085-132111086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs654365	chr4:132111112-132111113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs200981165	chr4:132111157-132111158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554472986	chr4:132111192-132111193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566339590	chr4:132111204-132111205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147576527	chr4:132111227-132111228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73851434	chr4:132111238-132111239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558136070	chr4:132111244-132111245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565505121	chr4:132111249-132111250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3913048	chr4:132111272-132111273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187993248	chr4:132111277-132111278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150189315	chr4:132111299-132111300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3913047	chr4:132111376-132111377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574179366	chr4:132111381-132111382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540153441	chr4:132111413-132111414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376592441	chr4:132111435-132111436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191381279	chr4:132111486-132111487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577072117	chr4:132111499-132111500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546132499	chr4:132111569-132111570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562890089	chr4:132111616-132111617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139581459	chr4:132111628-132111629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556276883	chr4:132111647-132111648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548732967	chr4:132111648-132111649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551418	chr4:132111688-132111689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532326655	chr4:132111720-132111721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182829530	chr4:132111741-132111742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187181287	chr4:132111742-132111743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538732334	chr4:132111775-132111776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571081769	chr4:132111781-132111782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112851485	chr4:132111825-132111826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539768541	chr4:132111834-132111835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551723217	chr4:132111856-132111857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149710505	chr4:132111875-132111876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191668517	chr4:132111882-132111883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145553410	chr4:132111967-132111968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574537387	chr4:132112001-132112002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533946663	chr4:132112021-132112022	Weak transcription	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	22037309	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132110800-132111000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:132111000-132117600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:132113400-132114000	ZNF genes & repeats	Dnd41	blood
4	chr4:132117400-132118400	Active TSS	A549	lung
5	chr4:132117600-132117800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:132128800-132129000	Enhancers	Placenta	Placenta
7	chr4:132128800-132129200	Enhancers	HepG2	liver
8	chr4:132128800-132129400	Active TSS	Primary T cells from cord blood	blood
9	chr4:132129000-132130800	Weak transcription	Placenta	Placenta
10	chr4:132130800-132131000	Enhancers	Placenta	Placenta
11	chr4:132130800-132131200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr4:132153400-132154000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr4:132155200-132155800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:132167400-132167800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:132169600-132170000	Enhancers	Dnd41	blood
16	chr4:132178600-132178800	Enhancers	Brain Substantia Nigra	brain
17	chr4:132178800-132179600	Weak transcription	Brain Substantia Nigra	brain
18	chr4:132179000-132180000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr4:132179400-132180400	Enhancers	Brain Hippocampus Middle	brain
20	chr4:132179600-132180000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:132179600-132180400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:132179600-132180600	Enhancers	Brain Cingulate Gyrus	brain
23	chr4:132179600-132180600	Enhancers	Brain Substantia Nigra	brain
24	chr4:132208400-132210400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:132211600-132211800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr4:132211600-132211800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr4:132211600-132211800	Flanking Bivalent TSS/Enh	HSMM	muscle
28	chr4:132211600-132211800	Enhancers	HSMMtube	muscle
29	chr4:132211600-132211800	ZNF genes & repeats	HUVEC	blood vessel
30	chr4:132211600-132211800	ZNF genes & repeats	K562	blood
31	chr4:132211600-132211800	Flanking Bivalent TSS/Enh	NH-A	brain
32	chr4:132211600-132211800	Flanking Bivalent TSS/Enh	NHEK	skin
33	chr4:132211600-132211800	Flanking Bivalent TSS/Enh	NHLF	lung
34	chr4:132211600-132211800	Enhancers	Osteobl	bone
35	chr4:132211600-132212000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:132211600-132212000	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr4:132211600-132212000	ZNF genes & repeats	GM12878-XiMat	blood
38	chr4:132211600-132212000	Active TSS	HMEC	breast
39	chr4:132211800-132212000	Active TSS	HSMM	muscle
40	chr4:132211800-132212000	Bivalent/Poised TSS	NHEK	skin
41	chr4:132214600-132214800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:132215200-132215400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:132223600-132223800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:132223800-132224800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:132237000-132238600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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