Variant report

Variant	esv2755754
Chromosome Location	chr1:165423342-165424342
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	chr1:165418887..165420482-chr1:165423380..165425136,2	K562	blood:
2	chr1:165402156..165404759-chr1:165423065..165425752,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs878179	chr1:165423353-165423354	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377500051	chr1:165423362-165423363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192848812	chr1:165423367-165423368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575406735	chr1:165423394-165423395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114988793	chr1:165423414-165423415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79980989	chr1:165423492-165423493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184691067	chr1:165423531-165423532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149476103	chr1:165423532-165423533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559685537	chr1:165423545-165423546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528711868	chr1:165423557-165423558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375109778	chr1:165423570-165423571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16845022	chr1:165423596-165423597	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531130305	chr1:165423617-165423618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550522157	chr1:165423633-165423634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189636796	chr1:165423636-165423637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536344495	chr1:165423646-165423647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553460083	chr1:165423660-165423661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566536077	chr1:165423691-165423692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538794484	chr1:165423739-165423740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116214016	chr1:165423791-165423792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575565189	chr1:165423795-165423796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574742723	chr1:165423796-165423797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192271823	chr1:165423833-165423834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184732298	chr1:165423853-165423854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540305488	chr1:165423858-165423859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7536062	chr1:165423876-165423877	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559427653	chr1:165423909-165423910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576879748	chr1:165423926-165423927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141972144	chr1:165424007-165424008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565339263	chr1:165424008-165424009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531100874	chr1:165424022-165424023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147324089	chr1:165424075-165424076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569008690	chr1:165424089-165424090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544804645	chr1:165424106-165424107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114252070	chr1:165424149-165424150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7536331	chr1:165424170-165424171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12354373	chr1:165424226-165424227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201917107	chr1:165424233-165424234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532818963	chr1:165424234-165424235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10595057	chr1:165424246-165424247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199547406	chr1:165424247-165424248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113980813	chr1:165424248-165424249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111666615	chr1:165424283-165424284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552307417	chr1:165424322-165424323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551323973	chr1:165424334-165424335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7513598	chr1:165424335-165424336	Weak transcription Enhancers	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165420400-165424400	Enhancers	Fetal Muscle Leg	muscle
2	chr1:165422200-165433200	Weak transcription	Right Ventricle	heart
3	chr1:165422400-165423600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:165422400-165423800	Enhancers	Fetal Heart	heart
5	chr1:165423000-165423400	Enhancers	HSMMtube	muscle
6	chr1:165423200-165424000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:165423200-165425400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:165423600-165424400	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:165424000-165434800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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