Variant report

Variant	esv2421711
Chromosome Location	chr1:165421874-165424170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165418887..165420482-chr1:165423380..165425136,2	K562	blood:
2	chr1:165420099..165422581-chr1:165428769..165430310,2	K562	blood:
3	chr1:165402156..165404759-chr1:165423065..165425752,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542489737	chr1:165421928-165421929	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535906442	chr1:165421950-165421951	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376908152	chr1:165421960-165421961	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528411072	chr1:165421978-165421979	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12092853	chr1:165421995-165421996	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564907637	chr1:165422012-165422013	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530515863	chr1:165422014-165422015	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550741989	chr1:165422022-165422023	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570241294	chr1:165422026-165422027	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs118163688	chr1:165422061-165422062	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549615296	chr1:165422130-165422131	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569035339	chr1:165422136-165422137	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6699656	chr1:165422202-165422203	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369930273	chr1:165422212-165422213	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535329050	chr1:165422257-165422258	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140834331	chr1:165422289-165422290	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16844995	chr1:165422305-165422306	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537143655	chr1:165422394-165422395	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557058468	chr1:165422420-165422421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs878180	chr1:165422460-165422461	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150154248	chr1:165422497-165422498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369030382	chr1:165422504-165422505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372799315	chr1:165422510-165422511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187258971	chr1:165422513-165422514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34467878	chr1:165422542-165422543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572758674	chr1:165422558-165422559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs285428	chr1:165422559-165422560	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371032171	chr1:165422570-165422571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530558903	chr1:165422591-165422592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544311096	chr1:165422680-165422681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58323504	chr1:165422715-165422716	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529838464	chr1:165422723-165422724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549549894	chr1:165422772-165422773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115213160	chr1:165422795-165422796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528768162	chr1:165422818-165422819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199883016	chr1:165422835-165422836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35395341	chr1:165422894-165422895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550664999	chr1:165422916-165422917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544423567	chr1:165422939-165422940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1326379	chr1:165422951-165422952	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4657440	chr1:165423030-165423031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138784057	chr1:165423042-165423043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536200240	chr1:165423082-165423083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140229343	chr1:165423188-165423189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567377844	chr1:165423199-165423200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12063930	chr1:165423204-165423205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145278533	chr1:165423224-165423225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567147456	chr1:165423243-165423244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137923190	chr1:165423272-165423273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12402931	chr1:165423287-165423288	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
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
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
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
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165415400-165422000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:165420400-165424400	Enhancers	Fetal Muscle Leg	muscle
3	chr1:165421000-165422400	Enhancers	Psoas Muscle	Psoas
4	chr1:165421000-165422400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:165421200-165422000	Weak transcription	Left Ventricle	heart
6	chr1:165421600-165422400	Flanking Active TSS	Fetal Heart	heart
7	chr1:165421800-165422000	Flanking Active TSS	HSMMtube	muscle
8	chr1:165421800-165423200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:165422000-165422200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:165422000-165422400	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:165422000-165423000	Weak transcription	HSMMtube	muscle
12	chr1:165422000-165423200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:165422000-165423200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:165422000-165423200	Enhancers	Left Ventricle	heart
15	chr1:165422200-165433200	Weak transcription	Right Ventricle	heart
16	chr1:165422400-165423600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:165422400-165423800	Enhancers	Fetal Heart	heart
18	chr1:165423000-165423400	Enhancers	HSMMtube	muscle
19	chr1:165423200-165424000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:165423200-165425400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:165423600-165424400	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:165424000-165434800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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