Variant report

Variant	nsv470072
Chromosome Location	chr4:132164925-132267442
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	chr4:132237834-132237865	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr4:132237297-132237506	GM12878	blood:	n/a	chr4:132237434-132237445
5	BATF	chr4:132230807-132231142	GM12878	blood:	n/a	chr4:132230925-132230936
6	BATF	chr4:132230793-132231130	GM12878	blood:	n/a	chr4:132230925-132230936
7	BCL11A	chr4:132230818-132231127	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:132178348-132178643	GM12878	blood:	n/a	chr4:132178369-132178378
9	BCL11A	chr4:132178410-132178696	GM12878	blood:	n/a	n/a
10	BHLHE40	chr4:132178402-132178703	GM12878	blood:	n/a	n/a
11	CBX3	chr4:132209558-132210022	HCT-116	colon:	n/a	n/a
12	CCNT2	chr4:132205064-132205471	K562	blood:	n/a	n/a
13	CEBPB	chr4:132179525-132179882	H1-hESC	embryonic stem cell:	n/a	chr4:132179698-132179709
14	CEBPB	chr4:132246562-132246885	IMR90	lung:	n/a	chr4:132246745-132246756
15	CEBPB	chr4:132179496-132179815	ECC-1	luminal epithelium:	n/a	chr4:132179698-132179709
16	CEBPB	chr4:132179571-132179733	A549	lung:	n/a	chr4:132179698-132179709
17	CEBPB	chr4:132184264-132184515	HepG2	liver:	n/a	chr4:132184363-132184376 chr4:132184363-132184374 chr4:132184365-132184376
18	CEBPB	chr4:132246573-132246902	HepG2	liver:	n/a	chr4:132246745-132246756
19	CEBPB	chr4:132246621-132246930	K562	blood:	n/a	chr4:132246745-132246756
20	CEBPB	chr4:132179607-132179807	HepG2	liver:	n/a	chr4:132179698-132179709
21	CEBPB	chr4:132179537-132179884	ECC-1	luminal epithelium:	n/a	chr4:132179698-132179709
22	CTCF	chr4:132223519-132223621	MCF-7	breast:	n/a	n/a
23	CTCF	chr4:132223355-132223722	MCF-7	breast:	n/a	n/a
24	CTCF	chr4:132250711-132250756	GM20000	blood:	n/a	n/a
25	CTCF	chr4:132223414-132223593	T-47D	breast:	n/a	n/a
26	CTCF	chr4:132218311-132218355	LNCaP	prostate:	n/a	n/a
27	CTCF	chr4:132192800-132192950	GM12867	blood:	n/a	n/a
28	CTCF	chr4:132223539-132223596	NHEK	skin:	n/a	n/a
29	CTCF	chr4:132223537-132223618	MCF-7	breast:	n/a	n/a
30	CTCF	chr4:132223297-132223431	MCF-7	breast:	n/a	n/a
31	CTCF	chr4:132223375-132223719	GM12878	blood:	n/a	n/a
32	CTCF	chr4:132223400-132223550	A549	lung:	n/a	n/a
33	CTCF	chr4:132223400-132223550	RPTEC	kidney:	n/a	n/a
34	CTCF	chr4:132223340-132223490	GM12873	blood:	n/a	n/a
35	CTCF	chr4:132223500-132223650	MCF-7	breast:	n/a	n/a
36	CTCF	chr4:132223380-132223530	GM12865	blood:	n/a	n/a
37	CTCF	chr4:132223395-132223666	Gliobla	brain:	n/a	n/a
38	CTCF	chr4:132223532-132223591	A549	lung:	n/a	n/a
39	CTCF	chr4:132223480-132223630	HMEC	breast:	n/a	n/a
40	CTCF	chr4:132223299-132223432	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr4:132223534-132223633	MCF-7	breast:	n/a	n/a
42	CTCF	chr4:132223480-132223630	MCF-7	breast:	n/a	n/a
43	CTCF	chr4:132223543-132223600	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr4:132223519-132223576	HepG2	liver:	n/a	n/a
45	CTCF	chr4:132223500-132223650	BE2_C	brain:	n/a	n/a
46	CTCF	chr4:132223369-132223392	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr4:132223566-132223601	LNCaP	prostate:	n/a	n/a
48	CTCF	chr4:132244613-132244650	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr4:132223480-132223630	RPTEC	kidney:	n/a	n/a
50	CTCF	chr4:132168475-132168509	Lung_OC	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:132252754..132254764-chr4:132258466..132259992,2	K562	blood:
2	chr4:132208528..132210188-chr4:132213412..132215740,2	MCF-7	breast:
3	chr4:132252754..132254764-chr4:132258466..132259992,2	K562	blood:
4	chr4:132208528..132210188-chr4:132213412..132215740,2	MCF-7	breast:

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

Extended variants
information (count: 423 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182325822	chr4:132167429-132167430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28605768	chr4:132167432-132167433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs79319713	chr4:132167440-132167441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116742051	chr4:132167459-132167460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576418781	chr4:132167463-132167464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7661661	chr4:132167492-132167493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150083107	chr4:132167494-132167495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28501108	chr4:132167497-132167498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536275470	chr4:132167511-132167512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138500183	chr4:132167519-132167520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187404841	chr4:132167528-132167529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371257589	chr4:132167549-132167550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538833590	chr4:132167565-132167566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558738660	chr4:132167605-132167606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549104454	chr4:132167607-132167608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75152483	chr4:132167612-132167613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111715008	chr4:132167671-132167672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574718326	chr4:132167672-132167673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182937935	chr4:132167723-132167724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186708579	chr4:132167730-132167731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs36073654	chr4:132167757-132167758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141630538	chr4:132167764-132167765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34150207	chr4:132167771-132167772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151030701	chr4:132169651-132169652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555601167	chr4:132169704-132169705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373643147	chr4:132169716-132169717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17051165	chr4:132169728-132169729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6855567	chr4:132169789-132169790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs200087395	chr4:132169858-132169859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144711973	chr4:132169862-132169863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377438935	chr4:132169866-132169867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142202187	chr4:132169908-132169909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374477749	chr4:132169909-132169910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188083608	chr4:132169916-132169917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554865634	chr4:132169941-132169942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147933290	chr4:132169943-132169944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141704444	chr4:132169949-132169950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561669996	chr4:132169950-132169951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115755640	chr4:132169968-132169969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560806783	chr4:132169999-132170000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192201219	chr4:132178601-132178602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563631059	chr4:132178648-132178649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529262931	chr4:132178699-132178700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549445516	chr4:132178711-132178712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572527990	chr4:132178819-132178820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559786235	chr4:132178849-132178850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528553636	chr4:132178856-132178857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs66775392	chr4:132178860-132178861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115607085	chr4:132178878-132178879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138251838	chr4:132178923-132178924	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	chr4:132167400-132167800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:132169600-132170000	Enhancers	Dnd41	blood
3	chr4:132178600-132178800	Enhancers	Brain Substantia Nigra	brain
4	chr4:132178800-132179600	Weak transcription	Brain Substantia Nigra	brain
5	chr4:132179000-132180000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:132179400-132180400	Enhancers	Brain Hippocampus Middle	brain
7	chr4:132179600-132180000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:132179600-132180400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:132179600-132180600	Enhancers	Brain Cingulate Gyrus	brain
10	chr4:132179600-132180600	Enhancers	Brain Substantia Nigra	brain
11	chr4:132208400-132210400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:132211600-132211800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr4:132211600-132211800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr4:132211600-132211800	Flanking Bivalent TSS/Enh	HSMM	muscle
15	chr4:132211600-132211800	Enhancers	HSMMtube	muscle
16	chr4:132211600-132211800	ZNF genes & repeats	HUVEC	blood vessel
17	chr4:132211600-132211800	ZNF genes & repeats	K562	blood
18	chr4:132211600-132211800	Flanking Bivalent TSS/Enh	NH-A	brain
19	chr4:132211600-132211800	Flanking Bivalent TSS/Enh	NHEK	skin
20	chr4:132211600-132211800	Flanking Bivalent TSS/Enh	NHLF	lung
21	chr4:132211600-132211800	Enhancers	Osteobl	bone
22	chr4:132211600-132212000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:132211600-132212000	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr4:132211600-132212000	ZNF genes & repeats	GM12878-XiMat	blood
25	chr4:132211600-132212000	Active TSS	HMEC	breast
26	chr4:132211800-132212000	Active TSS	HSMM	muscle
27	chr4:132211800-132212000	Bivalent/Poised TSS	NHEK	skin
28	chr4:132214600-132214800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:132215200-132215400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:132223600-132223800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:132223800-132224800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:132237000-132238600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:132265600-132266600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:132265800-132269800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:132265800-132269800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:132266000-132266200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr4:132266000-132266400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr4:132266000-132266600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:132266000-132266800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr4:132266000-132266800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:132266000-132268800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:132266600-132267600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:132266600-132267600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:132266800-132267800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr4:132266800-132267800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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