Variant report

Variant	esv3447720
Chromosome Location	chr1:190988729-190992527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:190987156..190989063-chr1:190989667..190991830,2	K562	blood:
2	chr1:190987156..190989063-chr1:190989667..190991830,2	K562	blood:
3	chr1:190907314..190910311-chr1:190988688..190990783,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567454529	chr1:190990433-190990434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536194748	chr1:190990442-190990443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182824735	chr1:190990448-190990449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546464942	chr1:190990471-190990472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553216846	chr1:190990505-190990506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572502431	chr1:190990514-190990515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368114580	chr1:190990515-190990516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541410089	chr1:190990574-190990575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558298900	chr1:190990658-190990659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578113777	chr1:190990679-190990680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543997922	chr1:190990713-190990714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560314386	chr1:190990721-190990722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563776029	chr1:190990744-190990745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145980717	chr1:190990772-190990773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12080081	chr1:190990792-190990793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373566835	chr1:190990802-190990803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559594172	chr1:190990839-190990840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187829003	chr1:190990870-190990871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533677830	chr1:190990965-190990966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550923096	chr1:190990998-190990999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139803964	chr1:190991006-190991007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571014831	chr1:190991009-190991010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77412739	chr1:190991035-190991036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397781959	chr1:190991044-190991045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563321505	chr1:190991046-190991047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191891334	chr1:190991081-190991082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550643879	chr1:190991099-190991100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78885033	chr1:190991155-190991156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536427077	chr1:190991164-190991165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546938317	chr1:190991255-190991256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566738147	chr1:190991292-190991293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535024969	chr1:190991310-190991311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558137443	chr1:190991390-190991391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183322634	chr1:190991398-190991399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575200997	chr1:190991401-190991402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555436406	chr1:190991437-190991438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557409302	chr1:190991459-190991460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543711374	chr1:190991510-190991511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574177666	chr1:190991517-190991518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564986826	chr1:190991540-190991541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143193286	chr1:190991599-190991600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147466422	chr1:190991620-190991621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74129829	chr1:190991621-190991622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374402259	chr1:190991642-190991643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573155979	chr1:190991649-190991650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192643047	chr1:190991651-190991652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564581372	chr1:190991665-190991666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377040811	chr1:190991764-190991765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184623029	chr1:190991771-190991772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111586801	chr1:190991791-190991792	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190990400-190993200	Enhancers	HUVEC	blood vessel
2	chr1:190991600-190992800	Enhancers	NH-A	brain
3	chr1:190991800-190992200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:190992200-190995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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