Variant report

Variant	esv3428411
Chromosome Location	chr6:153742559-153746057
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	chr6:153743740-153743890	HPF	lung:	n/a	n/a
2	FOS	chr6:153745870-153746149	HUVEC	blood vessel:	n/a	chr6:153746012-153746023
3	FOS	chr6:153746004-153746206	MCF10A-Er-Src	breast:	n/a	chr6:153746012-153746023
4	FOS	chr6:153745946-153746120	MCF10A-Er-Src	breast:	n/a	chr6:153746012-153746023
5	GATA3	chr6:153745702-153746275	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr6:153745743-153746243	SK-N-SH	brain:	n/a	n/a
7	JUN	chr6:153745925-153746107	HepG2	liver:	n/a	n/a
8	JUND	chr6:153745893-153746169	HepG2	liver:	n/a	chr6:153746012-153746023
9	MAFK	chr6:153743365-153743522	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr6:153744153-153744156	HepG2	liver:	n/a	n/a
11	MXI1	chr6:153744324-153744395	HepG2	liver:	n/a	n/a
12	MYC	chr6:153745250-153745412	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:153742971-153742977	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000264858	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113196864	chr6:153743372-153743373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs202128449	chr6:153743378-153743379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs199951649	chr6:153743384-153743385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139488864	chr6:153743451-153743452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs559798185	chr6:153743457-153743458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs527409930	chr6:153743459-153743460	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs545389465	chr6:153743467-153743468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs200841637	chr6:153743473-153743474	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs77938430	chr6:153743478-153743479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs142598636	chr6:153743491-153743492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs73014422	chr6:153743505-153743506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs9478418	chr6:153743513-153743514	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114119800	chr6:153743742-153743743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs115918787	chr6:153743757-153743758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs183025099	chr6:153743766-153743767	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558291058	chr6:153743771-153743772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs556449541	chr6:153743773-153743774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs150979853	chr6:153743790-153743791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs368816319	chr6:153743793-153743794	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs75084129	chr6:153743801-153743802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs79146519	chr6:153743821-153743822	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs78884485	chr6:153743838-153743839	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537070513	chr6:153743852-153743853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs74949093	chr6:153743853-153743854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs373372862	chr6:153743855-153743856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs78369782	chr6:153743856-153743857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs550632634	chr6:153743865-153743866	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs73014423	chr6:153743887-153743888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs73014424	chr6:153743890-153743891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs75045863	chr6:153744331-153744332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs111824267	chr6:153744332-153744333	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs73561477	chr6:153744390-153744391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD

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

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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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