Variant report

Variant	esv3343880
Chromosome Location	chr1:159526083-159527084
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	POLR2A	chr1:159526778-159526804	Gliobla	brain:	n/a	n/a
2	POLR2A	chr1:159526736-159526756	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000231100	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563445416	chr1:159526216-159526217	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs370784446	chr1:159526229-159526230	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs190561109	chr1:159526230-159526231	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs562024270	chr1:159526243-159526244	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548577975	chr1:159526253-159526254	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs138125560	chr1:159526269-159526270	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568368776	chr1:159526326-159526327	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs180964542	chr1:159526358-159526359	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs545301827	chr1:159526497-159526498	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs541086170	chr1:159526563-159526564	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559430113	chr1:159526619-159526620	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs4656238	chr1:159526635-159526636	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566128940	chr1:159526713-159526714	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540054101	chr1:159526737-159526738	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs557822770	chr1:159526741-159526742	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs4656239	chr1:159526792-159526793	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570141987	chr1:159526826-159526827	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368899515	chr1:159526838-159526839	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs117050543	chr1:159526850-159526851	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs142980263	chr1:159526883-159526884	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs370193925	chr1:159526938-159526939	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs555817995	chr1:159526947-159526948	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1891185	chr1:159526950-159526951	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541317864	chr1:159526985-159526986	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs73028801	chr1:159527078-159527079	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19602461	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159526200-159526600	Active TSS	Liver	Liver
2	chr1:159526200-159527200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:159526600-159526800	Flanking Active TSS	Liver	Liver
4	chr1:159526600-159527000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:159526600-159527800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:159526800-159527000	Active TSS	Liver	Liver
7	chr1:159527000-159528000	Flanking Active TSS	Liver	Liver

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