Variant report

Variant	esv3332033
Chromosome Location	chr1:195596344-195619604
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	chr1:195605744..195607558-chr1:195610835..195613690,2	K562	blood:
2	chr1:195605744..195607558-chr1:195610835..195613690,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181759380	chr1:195597080-195597081	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs34849749	chr1:195597158-195597159	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs58667184	chr1:195597167-195597168	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532677774	chr1:195597176-195597177	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs369381520	chr1:195597194-195597195	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs79919510	chr1:195597205-195597206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370886029	chr1:195597228-195597229	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs12756476	chr1:195597269-195597270	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141959117	chr1:195597321-195597322	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs377508452	chr1:195597326-195597327	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548843126	chr1:195597334-195597335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149197066	chr1:195601004-195601005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181403145	chr1:195601022-195601023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574934023	chr1:195601058-195601059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545391191	chr1:195601064-195601065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557285314	chr1:195601080-195601081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572812040	chr1:195601084-195601085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186510607	chr1:195601139-195601140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143317091	chr1:195601158-195601159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529696191	chr1:195601204-195601205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146819374	chr1:195601219-195601220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138016469	chr1:195601260-195601261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571440659	chr1:195601293-195601294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75031414	chr1:195601311-195601312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs59076328	chr1:195601313-195601314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35016663	chr1:195601314-195601315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201390069	chr1:195601316-195601317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12753319	chr1:195601317-195601318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533415254	chr1:195601345-195601346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12065539	chr1:195601374-195601375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373685486	chr1:195601382-195601383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549582236	chr1:195601383-195601384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563237223	chr1:195606681-195606682	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs372978332	chr1:195606705-195606706	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs530668789	chr1:195606715-195606716	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs545600878	chr1:195606728-195606729	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs542769218	chr1:195606732-195606733	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs564271173	chr1:195606738-195606739	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs10921881	chr1:195606741-195606742	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183563442	chr1:195606743-195606744	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs141783470	chr1:195606798-195606799	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs531597879	chr1:195606809-195606810	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs529279007	chr1:195606827-195606828	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543666857	chr1:195606828-195606829	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551344689	chr1:195606944-195606945	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs569575470	chr1:195607004-195607005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540100265	chr1:195607007-195607008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558402644	chr1:195607032-195607033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188517610	chr1:195607050-195607051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191848421	chr1:195607060-195607061	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195597000-195597400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:195601000-195601400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:195606600-195607000	Active TSS	Fetal Lung	lung
4	chr1:195606600-195607000	Active TSS	NHDF-Ad	bronchial
5	chr1:195606600-195607200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:195606600-195607200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:195606600-195607200	Enhancers	Fetal Brain Female	brain
8	chr1:195606800-195607200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:195608200-195609000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:195608400-195609000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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