Variant report

Variant	esv3435508
Chromosome Location	chr6:134153809-134155707
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	CTCF	chr6:134153897-134153977	Kidney_OC	kidney:	n/a	n/a
2	MAFF	chr6:134155620-134155983	HepG2	liver:	n/a	chr6:134155794-134155812
3	MAFF	chr6:134155625-134155965	K562	blood:	n/a	chr6:134155794-134155812
4	MAFK	chr6:134155627-134155978	HepG2	liver:	n/a	chr6:134155796-134155811
5	MAFK	chr6:134155619-134155992	HepG2	liver:	n/a	chr6:134155796-134155811
6	MAFK	chr6:134155665-134156106	H1-hESC	embryonic stem cell:	n/a	chr6:134155796-134155811
7	MAFK	chr6:134155636-134155962	K562	blood:	n/a	chr6:134155796-134155811
8	MAFK	chr6:134155627-134155990	Hela-S3	cervix:	n/a	chr6:134155796-134155811
9	MAFK	chr6:134155650-134156064	GM12878	blood:	n/a	chr6:134155796-134155811
10	MAFK	chr6:134155622-134155993	IMR90	lung:	n/a	chr6:134155796-134155811
11	REST	chr6:134154978-134155485	PFSK-1	brain:	n/a	n/a
12	REST	chr6:134154981-134155539	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000223586	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371998162	chr6:134153815-134153816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187558004	chr6:134153833-134153834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569285149	chr6:134153858-134153859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192497910	chr6:134153862-134153863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554982265	chr6:134153907-134153908	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs148172128	chr6:134153918-134153919	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs184232277	chr6:134153964-134153965	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs11754380	chr6:134154042-134154043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558050920	chr6:134154047-134154048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141979541	chr6:134154057-134154058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1855896	chr6:134154068-134154069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190047013	chr6:134154078-134154079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574042437	chr6:134154119-134154120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543035359	chr6:134154133-134154134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559831880	chr6:134154136-134154137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374960532	chr6:134154139-134154140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192879395	chr6:134154143-134154144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545519911	chr6:134154148-134154149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564093995	chr6:134154191-134154192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533176213	chr6:134154278-134154279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549620492	chr6:134154303-134154304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184887287	chr6:134154342-134154343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571205893	chr6:134154377-134154378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548545944	chr6:134154420-134154421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367774396	chr6:134154442-134154443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4896001	chr6:134154446-134154447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557561030	chr6:134154472-134154473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189442219	chr6:134154512-134154513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139439164	chr6:134154513-134154514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577504031	chr6:134154534-134154535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35055383	chr6:134154546-134154547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71003657	chr6:134154558-134154559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537651506	chr6:134154563-134154564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557628119	chr6:134154564-134154565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13213562	chr6:134154570-134154571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201633826	chr6:134154579-134154580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13437235	chr6:134154580-134154581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13437236	chr6:134154592-134154593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13437406	chr6:134154594-134154595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574384384	chr6:134154626-134154627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536975156	chr6:134154628-134154629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371984158	chr6:134154638-134154639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199797854	chr6:134154650-134154651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200656645	chr6:134154651-134154652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201969763	chr6:134154653-134154654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1208283	chr6:134154662-134154663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1208284	chr6:134154674-134154675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573207562	chr6:134154686-134154687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144085731	chr6:134154690-134154691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181032248	chr6:134154696-134154697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134152200-134154800	Weak transcription	Fetal Lung	lung
2	chr6:134152200-134155000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:134152200-134155000	Weak transcription	Ovary	ovary
4	chr6:134152400-134154800	Weak transcription	A549	lung
5	chr6:134152600-134154800	Weak transcription	Fetal Kidney	kidney
6	chr6:134154800-134155000	Flanking Active TSS	Fetal Kidney	kidney
7	chr6:134154800-134155600	Active TSS	Fetal Brain Male	brain
8	chr6:134154800-134155600	Enhancers	HSMMtube	muscle
9	chr6:134154800-134156200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:134154800-134156200	Enhancers	A549	lung
11	chr6:134154800-134156600	Enhancers	Fetal Stomach	stomach
12	chr6:134154800-134157600	Enhancers	Fetal Lung	lung
13	chr6:134155000-134155200	Enhancers	Fetal Kidney	kidney
14	chr6:134155000-134155400	Enhancers	Fetal Muscle Leg	muscle
15	chr6:134155000-134155600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr6:134155000-134155600	Enhancers	HSMM	muscle
17	chr6:134155000-134155600	Enhancers	NHLF	lung
18	chr6:134155000-134155800	Enhancers	Ovary	ovary
19	chr6:134155000-134156200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:134155200-134155400	Flanking Active TSS	Fetal Kidney	kidney
21	chr6:134155200-134155400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:134155200-134155600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:134155400-134157000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:134155400-134157400	Enhancers	Fetal Kidney	kidney
25	chr6:134155600-134159000	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links