Variant report

Variant	nsv946235
Chromosome Location	chr1:144493025-144510016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:280)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:144505988-144506367	GM12878	blood:	n/a	chr1:144506225-144506236
2	BATF	chr1:144509060-144509281	GM12878	blood:	n/a	n/a
3	BATF	chr1:144501231-144502049	GM12878	blood:	n/a	chr1:144501567-144501576
4	BATF	chr1:144506111-144506279	GM12878	blood:	n/a	chr1:144506225-144506236
5	BATF	chr1:144509096-144509307	GM12878	blood:	n/a	n/a
6	BATF	chr1:144507461-144507711	GM12878	blood:	n/a	n/a
7	BATF	chr1:144508099-144508353	GM12878	blood:	n/a	n/a
8	BATF	chr1:144494382-144494639	GM12878	blood:	n/a	n/a
9	BATF	chr1:144503041-144503309	GM12878	blood:	n/a	n/a
10	BATF	chr1:144501613-144502087	GM12878	blood:	n/a	n/a
11	BCL11A	chr1:144501244-144501475	GM12878	blood:	n/a	n/a
12	BCL11A	chr1:144501589-144502064	GM12878	blood:	n/a	n/a
13	BCL11A	chr1:144501112-144501338	GM12878	blood:	n/a	n/a
14	BCL11A	chr1:144503003-144503238	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:144506123-144506377	GM12878	blood:	n/a	n/a
16	BCL11A	chr1:144507164-144507443	GM12878	blood:	n/a	n/a
17	BCL11A	chr1:144494397-144494666	GM12878	blood:	n/a	n/a
18	BCL11A	chr1:144494424-144494661	GM12878	blood:	n/a	n/a
19	BCL11A	chr1:144508971-144509318	GM12878	blood:	n/a	n/a
20	BCL11A	chr1:144501616-144502097	GM12878	blood:	n/a	n/a
21	CEBPB	chr1:144496597-144496884	K562	blood:	n/a	n/a
22	CEBPB	chr1:144494152-144494438	K562	blood:	n/a	n/a
23	CEBPB	chr1:144494062-144494535	K562	blood:	n/a	n/a
24	CEBPB	chr1:144496528-144496881	K562	blood:	n/a	n/a
25	CEBPD	chr1:144494037-144494572	K562	blood:	n/a	n/a
26	EBF1	chr1:144492621-144493060	GM12878	blood:	n/a	chr1:144492989-144492999
27	EBF1	chr1:144494338-144494654	GM12878	blood:	n/a	n/a
28	EBF1	chr1:144501362-144502100	GM12878	blood:	n/a	n/a
29	EBF1	chr1:144502958-144503287	GM12878	blood:	n/a	n/a
30	EBF1	chr1:144504809-144505085	GM12878	blood:	n/a	n/a
31	EBF1	chr1:144505740-144505899	GM12878	blood:	n/a	n/a
32	EBF1	chr1:144501527-144502003	GM12878	blood:	n/a	n/a
33	EBF1	chr1:144494426-144494714	GM12878	blood:	n/a	n/a
34	EBF1	chr1:144504478-144505038	GM12878	blood:	n/a	n/a
35	EP300	chr1:144507191-144507704	GM12878	blood:	n/a	n/a
36	EP300	chr1:144501258-144502088	GM12878	blood:	n/a	n/a
37	EP300	chr1:144508193-144508450	GM12878	blood:	n/a	n/a
38	EP300	chr1:144494335-144494711	GM12878	blood:	n/a	n/a
39	EP300	chr1:144507481-144507653	GM12878	blood:	n/a	n/a
40	FOSL2	chr1:144501196-144501502	HepG2	liver:	n/a	n/a
41	FOSL2	chr1:144507457-144507658	HepG2	liver:	n/a	n/a
42	FOSL2	chr1:144508091-144508510	HepG2	liver:	n/a	n/a
43	FOSL2	chr1:144505912-144506379	HepG2	liver:	n/a	chr1:144505974-144505983
44	FOSL2	chr1:144505974-144506404	HepG2	liver:	n/a	chr1:144505974-144505983
45	FOSL2	chr1:144494378-144494648	HepG2	liver:	n/a	n/a
46	FOSL2	chr1:144508035-144508526	HepG2	liver:	n/a	n/a
47	FOXA1	chr1:144507295-144507850	HepG2	liver:	n/a	n/a
48	FOXA1	chr1:144494271-144494571	HepG2	liver:	n/a	n/a
49	FOXA1	chr1:144504543-144504891	HepG2	liver:	n/a	chr1:144504787-144504799
50	FOXA1	chr1:144506924-144507224	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIAL4B-2	chr1:144506277-144506436	ENSG00000236943.1
2	lnc-PPIAL4B-2	chr1:144506277-144506436	ENSG00000236943.1
3	lnc-PPIAL4B-2	chr1:144505804-144505925	ENSG00000236943.1
4	lnc-PPIAL4B-2	chr1:144506091-144506436	ENSG00000236943.1

No data

Variant related genes	Relation type
ENSG00000236943	TF binding region
RNVU1-5	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 164 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376349822	chr1:144493626-144493627	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs3009807	chr1:144494054-144494055	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs2923190	chr1:144494824-144494825	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs56334001	chr1:144494862-144494863	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs2994171	chr1:144495026-144495027	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs200917218	chr1:144495498-144495499	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs7414954	chr1:144495549-144495550	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs587746460	chr1:144495555-144495556	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs7417211	chr1:144495604-144495605	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs7416255	chr1:144495614-144495615	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs7415421	chr1:144495747-144495748	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs376810194	chr1:144495818-144495819	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs61802348	chr1:144506182-144506183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs61802349	chr1:144506283-144506284	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs557084	chr1:144506348-144506349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs144944932	chr1:144507306-144507307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61802353	chr1:144507407-144507408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11485972	chr1:144507590-144507591	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:164)

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
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144507200-144507600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:144507200-144507600	Enhancers	Fetal Intestine Small	intestine
3	chr1:144507400-144507600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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