Variant report

Variant	esv9790
Chromosome Location	chr1:144373652-144401687
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	BATF	chr1:144384899-144385095	GM12878	blood:	n/a	n/a
2	BATF	chr1:144383148-144383389	GM12878	blood:	n/a	n/a
3	BATF	chr1:144379834-144380086	GM12878	blood:	n/a	n/a
4	BATF	chr1:144389055-144389404	GM12878	blood:	n/a	chr1:144389254-144389265
5	BATF	chr1:144383867-144384453	GM12878	blood:	n/a	n/a
6	BATF	chr1:144383897-144384409	GM12878	blood:	n/a	n/a
7	BATF	chr1:144393767-144394272	GM12878	blood:	n/a	chr1:144393981-144393992 chr1:144394139-144394149
8	BATF	chr1:144389062-144389424	GM12878	blood:	n/a	chr1:144389254-144389265
9	BATF	chr1:144379807-144380075	GM12878	blood:	n/a	n/a
10	BATF	chr1:144393889-144394266	GM12878	blood:	n/a	chr1:144393981-144393992 chr1:144394139-144394149
11	BATF	chr1:144383148-144383357	GM12878	blood:	n/a	n/a
12	BCL11A	chr1:144389051-144389364	GM12878	blood:	n/a	n/a
13	BCL11A	chr1:144383132-144383364	GM12878	blood:	n/a	n/a
14	BCL11A	chr1:144383818-144384488	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:144393764-144394277	GM12878	blood:	n/a	chr1:144394141-144394150
16	BCL11A	chr1:144379152-144379326	GM12878	blood:	n/a	n/a
17	BCL11A	chr1:144389063-144389405	GM12878	blood:	n/a	n/a
18	BCL11A	chr1:144383884-144384348	GM12878	blood:	n/a	n/a
19	CTCF	chr1:144398760-144398813	GM10248	blood:	n/a	n/a
20	CTCF	chr1:144398827-144398898	Spleen_OC	spleen:	n/a	n/a
21	EBF1	chr1:144383833-144384435	GM12878	blood:	n/a	n/a
22	EBF1	chr1:144399701-144400033	GM12878	blood:	n/a	n/a
23	EBF1	chr1:144389100-144389374	GM12878	blood:	n/a	n/a
24	EBF1	chr1:144393844-144394136	GM12878	blood:	n/a	n/a
25	EBF1	chr1:144393832-144394169	GM12878	blood:	n/a	n/a
26	EBF1	chr1:144384902-144385121	GM12878	blood:	n/a	n/a
27	EBF1	chr1:144389119-144389340	GM12878	blood:	n/a	n/a
28	EBF1	chr1:144383884-144384494	GM12878	blood:	n/a	n/a
29	EP300	chr1:144384605-144385042	GM12878	blood:	n/a	n/a
30	EP300	chr1:144379847-144380195	GM12878	blood:	n/a	n/a
31	EP300	chr1:144376537-144376818	GM12878	blood:	n/a	n/a
32	EP300	chr1:144383555-144383827	GM12878	blood:	n/a	chr1:144383593-144383607
33	EP300	chr1:144383996-144384155	GM12878	blood:	n/a	n/a
34	EP300	chr1:144383828-144384546	GM12878	blood:	n/a	n/a
35	FOSL2	chr1:144393899-144394319	HepG2	liver:	n/a	chr1:144393985-144393993 chr1:144394139-144394150 chr1:144393973-144393982 chr1:144394136-144394145 chr1:144394141-144394151 chr1:144394142-144394150 chr1:144393986-144393993
36	FOSL2	chr1:144393933-144394217	HepG2	liver:	n/a	chr1:144393985-144393993 chr1:144394139-144394150 chr1:144393973-144393982 chr1:144394136-144394145 chr1:144394141-144394151 chr1:144394142-144394150 chr1:144393986-144393993
37	FOXA1	chr1:144378750-144379071	HepG2	liver:	n/a	n/a
38	GABPA	chr1:144393856-144394209	Hela-S3	cervix:	n/a	n/a
39	GABPA	chr1:144383148-144383353	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr1:144383138-144383302	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr1:144379950-144380066	Hela-S3	cervix:	n/a	n/a
42	GATA2	chr1:144379957-144380274	K562	blood:	n/a	n/a
43	GATA2	chr1:144376558-144376870	K562	blood:	n/a	n/a
44	GATA2	chr1:144398788-144399095	K562	blood:	n/a	chr1:144398934-144398944
45	GATA2	chr1:144379102-144379352	K562	blood:	n/a	n/a
46	GATA2	chr1:144383099-144383373	K562	blood:	n/a	n/a
47	GATA2	chr1:144392271-144392519	K562	blood:	n/a	chr1:144392448-144392457
48	GATA2	chr1:144374992-144375438	K562	blood:	n/a	chr1:144375207-144375216 chr1:144375207-144375217 chr1:144375202-144375223
49	GATA2	chr1:144398114-144398545	K562	blood:	n/a	chr1:144398279-144398290
50	IRF4	chr1:144383795-144384729	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIAL4B-3	chr1:144392143-144392429	NONHSAT005791
2	lnc-RP3-377D14.1.1-10	chr1:144401304-144401978	expReg_chr1_15531_+

Variant related genes	Relation type
ENSG00000271223	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 167 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2596014	chr1:144393842-144393843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs61801788	chr1:144394052-144394053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs536580	chr1:144394170-144394171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs61801846	chr1:144396866-144396867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs12143649	chr1:144401457-144401458	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:167)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	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
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	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
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
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Schizophrenia	19197363	CNVD
Dyslexia	22102821	CNVD
Autism	20808228	CNVD
Schizophrenia	19805367	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Autism	20841430	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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