Variant report

Variant	esv3466103
Chromosome Location	chr4:120552849-120556136
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	BHLHE40	chr4:120555071-120555145	GM12878	blood:	n/a	n/a
2	CEBPB	chr4:120553434-120553779	IMR90	lung:	n/a	n/a
3	CUX1	chr4:120554988-120555188	GM12878	blood:	n/a	n/a
4	EBF1	chr4:120554897-120555288	GM12878	blood:	n/a	n/a
5	EP300	chr4:120555057-120555113	GM12878	blood:	n/a	n/a
6	FOS	chr4:120553429-120553765	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr4:120553428-120553741	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr4:120553426-120553801	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr4:120553430-120553741	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr4:120553280-120553738	SK-N-SH	brain:	n/a	n/a
11	MAFK	chr4:120553442-120553768	IMR90	lung:	n/a	n/a
12	MAX	chr4:120554986-120555147	NB4	blood:	n/a	chr4:120555056-120555066
13	MXI1	chr4:120555022-120555178	GM12878	blood:	n/a	n/a
14	POLR2A	chr4:120554730-120554846	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr4:120553397-120553699	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120552728..120554364-chr4:120974086..120975727,2	MCF-7	breast:

Variant related genes	Relation type
PDE5A	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558275057	chr4:120552852-120552853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571796601	chr4:120552854-120552855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541642291	chr4:120552933-120552934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368277865	chr4:120552938-120552939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191842971	chr4:120553036-120553037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371020318	chr4:120553050-120553051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530285923	chr4:120553075-120553076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144047028	chr4:120553092-120553093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372541147	chr4:120553158-120553159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185029366	chr4:120553182-120553183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556090900	chr4:120553240-120553241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375406192	chr4:120553242-120553243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377511204	chr4:120553243-120553244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10010114	chr4:120553244-120553245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57666356	chr4:120553245-120553246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201260324	chr4:120553246-120553247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201886046	chr4:120553250-120553251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560948034	chr4:120553254-120553255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532553990	chr4:120553263-120553264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55777923	chr4:120553264-120553265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs9998390	chr4:120553281-120553282	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs9998391	chr4:120553283-120553284	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs9998243	chr4:120553290-120553291	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs112170831	chr4:120553351-120553352	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs528581996	chr4:120553404-120553405	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs34835603	chr4:120553428-120553429	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs567372677	chr4:120553455-120553456	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs533400297	chr4:120553469-120553470	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs536415056	chr4:120553482-120553483	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs549819544	chr4:120553549-120553550	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs536904840	chr4:120553566-120553567	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs569608996	chr4:120553569-120553570	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs540509496	chr4:120553580-120553581	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs553402206	chr4:120553607-120553608	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs111998906	chr4:120553678-120553679	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs386678972	chr4:120553682-120553683	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs113866947	chr4:120553683-120553684	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111954047	chr4:120553684-120553685	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs182189650	chr4:120553695-120553696	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs554613862	chr4:120553697-120553698	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs372838840	chr4:120553727-120553728	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs58710238	chr4:120553732-120553733	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs543949124	chr4:120553763-120553764	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs115034061	chr4:120553765-120553766	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs185136220	chr4:120553787-120553788	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs112567513	chr4:120553814-120553815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140140529	chr4:120553869-120553870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528460466	chr4:120553870-120553871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28866816	chr4:120553935-120553936	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs562174027	chr4:120553996-120553997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
Colorectal cancer	20459617	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120550600-120553600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:120550600-120554400	Weak transcription	Pancreas	Pancrea
3	chr4:120550800-120553200	Weak transcription	NHDF-Ad	bronchial
4	chr4:120550800-120553400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:120550800-120553400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:120550800-120553400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:120550800-120553400	Weak transcription	NH-A	brain
8	chr4:120550800-120553600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:120551000-120553400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:120551200-120554000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:120551600-120554000	Enhancers	NHLF	lung
12	chr4:120552200-120554200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:120552400-120558600	Weak transcription	Fetal Stomach	stomach
14	chr4:120552800-120553600	Weak transcription	Osteobl	bone
15	chr4:120553200-120554000	Enhancers	NHDF-Ad	bronchial
16	chr4:120553400-120553800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:120553400-120554000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:120553400-120554000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:120553400-120554000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:120553400-120554000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:120553400-120554000	Enhancers	NH-A	brain
22	chr4:120553600-120554000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:120553600-120554000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:120553600-120554200	Enhancers	Osteobl	bone
25	chr4:120554000-120559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:120554000-120559400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:120554000-120559400	Weak transcription	NHLF	lung
28	chr4:120554200-120554600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:120554200-120557400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:120554200-120559400	Weak transcription	Osteobl	bone

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