Variant report

Variant	esv3346108
Chromosome Location	chr2:73427679-73428299
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	FOS	chr2:73427461-73427795	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr2:73427472-73427794	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:73427452-73427794	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr2:73427453-73427775	MCF10A-Er-Src	breast:	n/a	n/a
5	FOSL2	chr2:73427384-73427792	HepG2	liver:	n/a	n/a
6	JUND	chr2:73427496-73427698	HepG2	liver:	n/a	chr2:73427632-73427643

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73427544..73429949-chr2:73439664..73441531,2	MCF-7	breast:
2	chr2:73427265..73431524-chr2:73439833..73442659,3	K562	blood:

Variant related genes	Relation type
NOTO	TF binding region
ENSG00000135632	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188119071	chr2:73427698-73427699	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11894877	chr2:73427744-73427745	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571631487	chr2:73427783-73427784	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs539654251	chr2:73427829-73427830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557520826	chr2:73427841-73427842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572849083	chr2:73427865-73427866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540091205	chr2:73427927-73427928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs193098466	chr2:73427947-73427948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113778302	chr2:73427948-73427949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543840019	chr2:73427949-73427950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562636952	chr2:73427956-73427957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532874036	chr2:73428004-73428005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532262075	chr2:73428024-73428025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544059278	chr2:73428071-73428072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112832071	chr2:73428127-73428128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372919072	chr2:73428149-73428150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527998720	chr2:73428152-73428153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564295166	chr2:73428232-73428233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549666284	chr2:73428238-73428239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73427200-73430800	Weak transcription	HepG2	liver

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