Variant report

Variant	esv3334684
Chromosome Location	chr1:190744729-190748427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:190744924-190745187	HepG2	liver:	n/a	chr1:190745043-190745054 chr1:190745113-190745126
2	EP300	chr1:190745537-190745561	K562	blood:	n/a	n/a
3	IRF1	chr1:190746603-190746624	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000236025	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575887481	chr1:190746616-190746617	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs186828904	chr1:190747005-190747006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564784759	chr1:190747010-190747011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74129790	chr1:190747030-190747031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191589357	chr1:190747031-190747032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532134331	chr1:190747064-190747065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16832755	chr1:190747108-190747109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141639933	chr1:190747127-190747128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184222794	chr1:190747137-190747138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532506973	chr1:190747169-190747170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189975721	chr1:190747178-190747179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192582430	chr1:190747194-190747195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531815446	chr1:190747195-190747196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548455492	chr1:190747210-190747211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74886212	chr1:190747215-190747216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533777766	chr1:190747223-190747224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547078324	chr1:190747248-190747249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570495155	chr1:190747291-190747292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539183081	chr1:190747314-190747315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368292829	chr1:190747373-190747374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560009316	chr1:190747394-190747395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556324663	chr1:190747493-190747494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386637938	chr1:190747517-190747518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576291185	chr1:190747567-190747568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535689281	chr1:190747571-190747572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555697599	chr1:190747600-190747601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553450711	chr1:190747636-190747637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572254670	chr1:190747735-190747736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540582263	chr1:190747814-190747815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185369881	chr1:190747815-190747816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552623172	chr1:190747843-190747844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545868897	chr1:190747882-190747883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1030920	chr1:190747901-190747902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188745170	chr1:190747970-190747971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73048774	chr1:190747993-190747994	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	17899364	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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190747000-190748000	Enhancers	Brain Germinal Matrix	brain
2	chr1:190747200-190747600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:190747600-190748000	Enhancers	Cortex derived primary cultured neurospheres	brain

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