Variant report

Variant	esv3390148
Chromosome Location	chr9:26614018-26614185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:26613880-26614030	HMF	breast:	n/a	n/a
2	CTCF	chr9:26613721-26614329	A549	lung:	n/a	n/a
3	CTCF	chr9:26613880-26614030	AG04449	skin:	n/a	n/a
4	CTCF	chr9:26614140-26614290	GM12873	blood:	n/a	n/a
5	CTCF	chr9:26613956-26614209	GM12878	blood:	n/a	n/a
6	CTCF	chr9:26613985-26614158	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr9:26613880-26614030	AG04450	lung:	n/a	n/a
8	CTCF	chr9:26614160-26614310	HVMF	connective:	n/a	n/a
9	CTCF	chr9:26614140-26614290	HCT-116	colon:	n/a	n/a
10	CTCF	chr9:26614140-26614290	GM06990	blood:	n/a	n/a
11	CTCF	chr9:26613880-26614030	GM12872	blood:	n/a	n/a
12	CTCF	chr9:26613931-26614144	MCF-7	breast:	n/a	n/a
13	CTCF	chr9:26614140-26614290	BE2_C	brain:	n/a	n/a
14	CTCF	chr9:26613924-26614163	K562	blood:	n/a	n/a
15	CTCF	chr9:26613880-26614030	HCFaa	heart:	n/a	n/a
16	CTCF	chr9:26613900-26614050	GM12871	blood:	n/a	n/a
17	CTCF	chr9:26613910-26614183	A549	lung:	n/a	n/a
18	CTCF	chr9:26613880-26614030	HepG2	liver:	n/a	n/a
19	CTCF	chr9:26613880-26614030	HPF	lung:	n/a	n/a
20	CTCF	chr9:26614140-26614290	GM12868	blood:	n/a	n/a
21	CTCF	chr9:26613931-26614146	MCF-7	breast:	n/a	n/a
22	CTCF	chr9:26614120-26614270	K562	blood:	n/a	n/a
23	CTCF	chr9:26614160-26614310	HFF	foreskin:	n/a	n/a
24	CTCF	chr9:26613880-26614030	HCT-116	colon:	n/a	n/a
25	CTCF	chr9:26613880-26614030	HCM	heart:	n/a	n/a
26	CTCF	chr9:26613957-26614155	GM19240	blood:	n/a	n/a
27	CTCF	chr9:26614120-26614270	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr9:26613880-26614030	NHEK	skin:	n/a	n/a
29	CTCF	chr9:26614140-26614290	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr9:26613880-26614030	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr9:26613880-26614030	GM12864	blood:	n/a	n/a
32	CTCF	chr9:26613939-26614124	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr9:26614140-26614290	GM12865	blood:	n/a	n/a
34	CTCF	chr9:26613955-26614140	MCF-7	breast:	n/a	n/a
35	CTCF	chr9:26613952-26614170	MCF-7	breast:	n/a	n/a
36	CTCF	chr9:26613921-26614162	GM19238	blood:	n/a	n/a
37	CTCF	chr9:26613880-26614030	HVMF	connective:	n/a	n/a
38	CTCF	chr9:26613900-26614050	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr9:26613880-26614030	GM12873	blood:	n/a	n/a
40	CTCF	chr9:26613987-26614133	K562	blood:	n/a	n/a
41	CTCF	chr9:26613966-26614145	GM19239	blood:	n/a	n/a
42	CTCF	chr9:26613949-26614147	ProgFib	skin:	n/a	n/a
43	CTCF	chr9:26613880-26614030	GM06990	blood:	n/a	n/a
44	CTCF	chr9:26613978-26614119	GM13977	blood:	n/a	n/a
45	CTCF	chr9:26613762-26614273	K562	blood:	n/a	n/a
46	CTCF	chr9:26614100-26614250	GM12867	blood:	n/a	n/a
47	CTCF	chr9:26613880-26614030	SAEC	small airway:	n/a	n/a
48	CTCF	chr9:26613936-26614172	LNCaP	prostate:	n/a	n/a
49	CTCF	chr9:26613984-26614121	GM10266	blood:	n/a	n/a
50	CTCF	chr9:26613880-26614030	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000266429	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 117 )

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	rs143466056	chr9:26614161-26614162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	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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