Variant report

Variant	esv18854
Chromosome Location	chr1:189589192-189589675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:189589226..189590045-chr1:189662088..189662866,2	MCF-7	breast:
2	chr1:189588020..189590795-chr1:189591484..189594244,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74138445	chr1:189589199-189589200	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139762326	chr1:189589207-189589208	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112870665	chr1:189589232-189589233	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548571301	chr1:189589237-189589238	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs116124040	chr1:189589254-189589255	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs527721660	chr1:189589259-189589260	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192366969	chr1:189589279-189589280	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10489759	chr1:189589339-189589340	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
9	rs539895528	chr1:189589370-189589371	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs80295109	chr1:189589407-189589408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2038651	chr1:189589427-189589428	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538164383	chr1:189589429-189589430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148697679	chr1:189589433-189589434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554598340	chr1:189589440-189589441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16829235	chr1:189589442-189589443	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533588103	chr1:189589450-189589451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16829236	chr1:189589468-189589469	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184786768	chr1:189589512-189589513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113379736	chr1:189589555-189589556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111987603	chr1:189589568-189589569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16830968	chr1:189589570-189589571	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs10489758	chr1:189589594-189589595	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113385776	chr1:189589597-189589598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116620886	chr1:189589607-189589608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563505177	chr1:189589626-189589627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73049572	chr1:189589634-189589635	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527988824	chr1:189589639-189589640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189588600-189589600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:189588600-189589600	Enhancers	HUVEC	blood vessel
3	chr1:189588600-189589800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:189588800-189589400	Enhancers	NHEK	skin
5	chr1:189588800-189589800	Enhancers	HMEC	breast
6	chr1:189589000-189589400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:189589000-189589400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:189589000-189589400	Flanking Active TSS	A549	lung
9	chr1:189589000-189589400	Enhancers	Hela-S3	cervix
10	chr1:189589000-189589400	Enhancers	NH-A	brain
11	chr1:189589000-189589400	Enhancers	Osteobl	bone
12	chr1:189589400-189589800	Enhancers	A549	lung
13	chr1:189589400-189593200	Weak transcription	Hela-S3	cervix

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