Variant report

Variant	esv3324021
Chromosome Location	chr4:132674202-132685100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 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
2	CTCF	chr4:132680481-132680506	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:132678391-132678446	A549	lung:	n/a	n/a
4	REST	chr4:132675361-132675622	PANC-1	pancreas:	n/a	n/a
5	REST	chr4:132680316-132680577	PANC-1	pancreas:	n/a	n/a
6	TCF3	chr4:132675392-132675632	GM12878	blood:	n/a	n/a
7	TCF3	chr4:132682847-132683166	GM12878	blood:	n/a	n/a
8	TCF3	chr4:132680347-132680587	GM12878	blood:	n/a	n/a
9	TCF3	chr4:132677892-132678211	GM12878	blood:	n/a	n/a
10	YY1	chr4:132678323-132678561	A549	lung:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132677681-132677731	AG09319	gingival:	n/a
2	chr4:132677681-132677731	NHBE	bronchial:	n/a
3	chr4:132677675-132677725	MCF-7	breast:	n/a
4	chr4:132683397-132683447	SAEC	small airway:	n/a
5	chr4:132677675-132677725	HepG2	liver:	n/a
6	chr4:132684138-132684188	HMEC	breast:	n/a
7	chr4:132684138-132684188	BE2_C	brain:	n/a
8	chr4:132684138-132684188	HEK293	kidney:	embryo
9	chr4:132677675-132677725	BJ	skin:	n/a
10	chr4:132677675-132677725	K562	blood:	n/a
11	chr4:132677681-132677731	NH-A	brain:	n/a
12	chr4:132677681-132677731	SK-N-SH_RA	brain:	n/a
13	chr4:132677675-132677725	H1-hESC	embryonic stem cell:	embryo
14	chr4:132677675-132677725	CMK	blood:	n/a
15	chr4:132684138-132684188	HRE	kidney:	n/a
16	chr4:132677681-132677731	A549	lung:	n/a
17	chr4:132684138-132684188	H1-hESC	embryonic stem cell:	embryo
18	chr4:132677681-132677731	AG04450	lung:	fetal
19	chr4:132684138-132684188	RPTEC	kidney:	n/a
20	chr4:132683397-132683447	SKMC	muscle:	n/a
21	chr4:132683397-132683447	HRCEpiC	kidney:	n/a
22	chr4:132677681-132677731	GM12891	blood:	n/a
23	chr4:132684138-132684188	PANC-1	pancreas:	n/a
24	chr4:132677675-132677725	A549	lung:	n/a
25	chr4:132677675-132677725	RPTEC	kidney:	n/a
26	chr4:132677675-132677725	HCM	heart:	n/a
27	chr4:132677675-132677725	LNCaP	prostate:	n/a
28	chr4:132677681-132677731	GM19239	blood:	n/a
29	chr4:132677681-132677731	HepG2	liver:	n/a
30	chr4:132684138-132684188	AG04449	skin:	fetal
31	chr4:132677675-132677725	HMEC	breast:	n/a
32	chr4:132677675-132677725	HCPEpiC	choroid plexus:	n/a
33	chr4:132677681-132677731	HCF	heart:	n/a
34	chr4:132683397-132683447	LNCaP	prostate:	n/a
35	chr4:132677675-132677725	ProgFib	skin:	n/a
36	chr4:132677681-132677731	HCM	heart:	n/a
37	chr4:132677675-132677725	HRCEpiC	kidney:	n/a
38	chr4:132683397-132683447	GM06990	blood:	n/a
39	chr4:132683397-132683447	GM12891	blood:	n/a
40	chr4:132677675-132677725	U87	brain:	n/a
41	chr4:132677675-132677725	AG10803	skin:	n/a
42	chr4:132684138-132684188	HCM	heart:	n/a
43	chr4:132677675-132677725	GM12891	blood:	n/a
44	chr4:132683397-132683447	HIPEpiC	eye:	n/a
45	chr4:132677681-132677731	HMEC	breast:	n/a
46	chr4:132677681-132677731	HRCEpiC	kidney:	n/a
47	chr4:132684138-132684188	HCPEpiC	choroid plexus:	n/a
48	chr4:132684138-132684188	AG04450	lung:	fetal
49	chr4:132684138-132684188	PrEC	prostate:	n/a
50	chr4:132684138-132684188	SK-N-SH	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-16	chr4:132678560-132678792	NONHSAT098318

No data

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