Variant report

Variant	esv3399447
Chromosome Location	chr1:158487353-158489901
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	chr1:158488329-158488665	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000231434	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7555088	chr1:158487382-158487383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527395614	chr1:158487393-158487394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376624763	chr1:158487400-158487401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138871667	chr1:158487405-158487406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7555174	chr1:158487426-158487427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548364794	chr1:158487454-158487455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567764638	chr1:158487458-158487459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528559357	chr1:158487470-158487471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183111542	chr1:158487495-158487496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12124875	chr1:158487511-158487512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188596449	chr1:158487513-158487514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191441547	chr1:158487514-158487515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12124876	chr1:158487517-158487518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557228257	chr1:158487533-158487534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146442997	chr1:158487541-158487542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72067589	chr1:158487543-158487544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536999462	chr1:158487564-158487565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569149001	chr1:158487584-158487585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563764579	chr1:158487589-158487590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7529179	chr1:158487608-158487609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs142279885	chr1:158487624-158487625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572872252	chr1:158487629-158487630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201079374	chr1:158487632-158487633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146386516	chr1:158487642-158487643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183049274	chr1:158487702-158487703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549702087	chr1:158487709-158487710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576770990	chr1:158487715-158487716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533315817	chr1:158487718-158487719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569745420	chr1:158487744-158487745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544561020	chr1:158487791-158487792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562782781	chr1:158487793-158487794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192888277	chr1:158488544-158488545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs540412589	chr1:158488631-158488632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs73029560	chr1:158489408-158489409	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs527951676	chr1:158489452-158489453	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs149986536	chr1:158489456-158489457	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs571042882	chr1:158489458-158489459	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs189922608	chr1:158489469-158489470	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs563609575	chr1:158489472-158489473	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs7339982	chr1:158489481-158489482	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs549898150	chr1:158489490-158489491	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs568102934	chr1:158489511-158489512	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs369801163	chr1:158489538-158489539	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs35024434	chr1:158489551-158489552	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs181364032	chr1:158489587-158489588	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Invasive pancreatic ductal carcinoma	16982739	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	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158486800-158487800	Enhancers	Brain Hippocampus Middle	brain
2	chr1:158489400-158489600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links