Variant report

Variant	esv3378959
Chromosome Location	chr4:132683167-132685010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:132684958-132685024	Kidney_OC	kidney:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132683397-132683447	GM12891	blood:	n/a
2	chr4:132683397-132683447	HepG2	liver:	n/a
3	chr4:132684138-132684188	ECC-1	luminal epithelium:	n/a
4	chr4:132683397-132683447	HMEC	breast:	n/a
5	chr4:132683397-132683447	AoSMC	blood vessel:	n/a
6	chr4:132683397-132683447	NB4	blood:	n/a
7	chr4:132683397-132683447	HEEpiC	esophagus:	n/a
8	chr4:132684138-132684188	NT2-D1	testis:	n/a
9	chr4:132684138-132684188	HMEC	breast:	n/a
10	chr4:132684138-132684188	HRPEpiC	eye:	n/a
11	chr4:132683397-132683447	SAEC	small airway:	n/a
12	chr4:132683397-132683447	T-47D	breast:	n/a
13	chr4:132684138-132684188	A549	lung:	n/a
14	chr4:132684138-132684188	HUVEC	blood vessel:	n/a
15	chr4:132683397-132683447	SK-N-SH	brain:	n/a
16	chr4:132684138-132684188	HCF	heart:	n/a
17	chr4:132683397-132683447	GM19239	blood:	n/a
18	chr4:132683397-132683447	PFSK-1	brain:	n/a
19	chr4:132684138-132684188	PANC-1	pancreas:	n/a
20	chr4:132684138-132684188	SK-N-SH_RA	brain:	n/a
21	chr4:132683397-132683447	RPTEC	kidney:	n/a
22	chr4:132683397-132683447	ovcar-3	ovarian:	n/a
23	chr4:132683397-132683447	HCM	heart:	n/a
24	chr4:132683397-132683447	CMK	blood:	n/a
25	chr4:132683397-132683447	GM12878	blood:	n/a
26	chr4:132683397-132683447	PrEC	prostate:	n/a
27	chr4:132684138-132684188	AG09309	skin:	n/a
28	chr4:132684138-132684188	BJ	skin:	n/a
29	chr4:132684138-132684188	HRCEpiC	kidney:	n/a
30	chr4:132684138-132684188	MCF10A-Er-Src	breast:	n/a
31	chr4:132683397-132683447	HRPEpiC	eye:	n/a
32	chr4:132684138-132684188	AG04450	lung:	fetal
33	chr4:132683397-132683447	AG04450	lung:	fetal
34	chr4:132684138-132684188	HCM	heart:	n/a
35	chr4:132683397-132683447	HPAEpiC	pulmonary alveolar:	n/a
36	chr4:132683397-132683447	SK-N-MC	brain:	n/a
37	chr4:132683397-132683447	HAEpiC	amniotic membrane:	n/a
38	chr4:132684138-132684188	HCT-116	colon:	n/a
39	chr4:132684138-132684188	HAEpiC	amniotic membrane:	n/a
40	chr4:132683397-132683447	SKMC	muscle:	n/a
41	chr4:132683397-132683447	Hepatocyte	liver:	n/a
42	chr4:132684138-132684188	HL-60	blood:	n/a
43	chr4:132684138-132684188	Caco-2	colon:	n/a
44	chr4:132683397-132683447	NT2-D1	testis:	n/a
45	chr4:132684138-132684188	AG09319	gingival:	n/a
46	chr4:132684138-132684188	HNPCEpiC	eye:	n/a
47	chr4:132684138-132684188	GM12892	blood:	n/a
48	chr4:132684138-132684188	HPAEpiC	pulmonary alveolar:	n/a
49	chr4:132684138-132684188	GM12878	blood:	n/a
50	chr4:132684138-132684188	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000252014	TF binding region
ENSG00000249416	TF binding region
ENSG00000252014	CpG island
ENSG00000249416	CpG island

Extended variants
information (count: 1 )
Associated
traits (count: 77 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369566374	chr4:132684992-132684993	Inactive region	TF binding region	2 gene(s)	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
Autism	19492091	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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