Variant report

Variant	esv3333020
Chromosome Location	chr1:165443046-165443574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575929214	chr1:165443063-165443064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541751103	chr1:165443065-165443066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184634651	chr1:165443102-165443103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142575829	chr1:165443109-165443110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372871966	chr1:165443118-165443119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372048967	chr1:165443131-165443132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540673210	chr1:165443136-165443137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146353539	chr1:165443137-165443138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189127508	chr1:165443217-165443218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552732225	chr1:165443218-165443219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114868273	chr1:165443222-165443223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532025573	chr1:165443228-165443229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548866812	chr1:165443229-165443230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568794857	chr1:165443242-165443243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115621040	chr1:165443295-165443296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181817309	chr1:165443331-165443332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374480217	chr1:165443337-165443338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570915563	chr1:165443350-165443351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs285412	chr1:165443363-165443364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs556302628	chr1:165443365-165443366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139708598	chr1:165443366-165443367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535287232	chr1:165443369-165443370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555194389	chr1:165443413-165443414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564128807	chr1:165443441-165443442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185903	chr1:165443460-165443461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs184773871	chr1:165443492-165443493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563970591	chr1:165443567-165443568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74118668	chr1:165443572-165443573	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165437200-165443400	Weak transcription	Brain Anterior Caudate	brain
2	chr1:165438600-165453200	Weak transcription	Fetal Heart	heart
3	chr1:165439200-165445600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:165439600-165445800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:165443000-165451400	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:165443400-165443600	Enhancers	Brain Anterior Caudate	brain

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