Variant report

Variant	nsv946228
Chromosome Location	chr1:144296090-144305617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:144302692-144302831	K562	blood:	n/a	n/a
2	CEBPD	chr1:144302592-144302972	K562	blood:	n/a	n/a
3	CTCF	chr1:144301020-144301337	A549	lung:	n/a	n/a
4	CTCF	chr1:144301463-144301580	GM13976	blood:	n/a	n/a
5	CTCF	chr1:144300575-144300626	Pancreas_OC	pancreas:	n/a	n/a
6	CTCF	chr1:144300332-144300423	Medullo	brain:	n/a	n/a
7	EBF1	chr1:144301027-144301407	GM12878	blood:	n/a	n/a
8	GABPA	chr1:144302507-144302715	Hela-S3	cervix:	n/a	n/a
9	GATA2	chr1:144303037-144303275	K562	blood:	n/a	n/a
10	GATA2	chr1:144302526-144303026	K562	blood:	n/a	n/a
11	PAX5	chr1:144302031-144302323	GM12878	blood:	n/a	n/a
12	PAX5	chr1:144302063-144302340	GM12878	blood:	n/a	n/a
13	PBX3	chr1:144303052-144303200	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:144299921-144300216	K562	blood:	n/a	n/a
15	POLR2A	chr1:144301758-144301931	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:144301100-144301316	A549	lung:	n/a	n/a
17	POLR2A	chr1:144301030-144301682	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:144301101-144301315	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:144300840-144302025	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:144301089-144301330	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr1:144297682-144297892	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:144301007-144301734	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:144301341-144301595	A549	lung:	n/a	n/a
24	POLR2A	chr1:144300968-144301641	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:144301054-144301625	A549	lung:	n/a	n/a
26	POLR2A	chr1:144302622-144302997	K562	blood:	n/a	n/a
27	POLR2A	chr1:144302526-144302793	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:144300680-144301495	K562	blood:	n/a	n/a
29	POLR2A	chr1:144301092-144301646	A549	lung:	n/a	n/a
30	POLR2A	chr1:144301381-144301575	A549	lung:	n/a	n/a
31	POLR2A	chr1:144301785-144301798	K562	blood:	n/a	n/a
32	POLR2A	chr1:144301372-144301732	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr1:144301068-144301321	H1-hESC	embryonic stem cell:	n/a	n/a
34	POU2F2	chr1:144302281-144302608	GM12878	blood:	n/a	n/a
35	POU2F2	chr1:144302013-144302270	GM12878	blood:	n/a	n/a
36	POU2F2	chr1:144301787-144301905	GM12878	blood:	n/a	n/a
37	POU2F2	chr1:144302616-144302740	GM12878	blood:	n/a	n/a
38	SIX5	chr1:144302470-144302829	K562	blood:	n/a	n/a
39	SPI1	chr1:144302670-144302818	K562	blood:	n/a	n/a
40	SRF	chr1:144301108-144301287	GM12878	blood:	n/a	n/a
41	TAF1	chr1:144301033-144301673	H1-hESC	embryonic stem cell:	n/a	n/a
42	TAF1	chr1:144300753-144301784	H1-hESC	embryonic stem cell:	n/a	n/a
43	USF1	chr1:144301791-144301917	HepG2	liver:	n/a	n/a
44	ZBTB33	chr1:144302079-144302534	K562	blood:	n/a	n/a
45	ZBTB33	chr1:144302570-144302949	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIAL4B-4	chr1:144297622-144297896	expRegAs_chr1_13930_-
2	lnc-PPIAL4B-1	chr1:144300517-144300755	NR_024584
3	lnc-PPIAL4B-1	chr1:144301398-144301536	ENSG00000235398.4
4	lnc-PPIAL4B-1	chr1:144301350-144301536	NR_109754
5	lnc-PPIAL4B-1	chr1:144300512-144300755	NONHSAT005780
6	lnc-PPIAL4B-1	chr1:144301190-144301536	NR_024584
7	lnc-PPIAL4B-1	chr1:144301190-144301536	NONHSAT005782
8	lnc-PPIAL4B-1	chr1:144300514-144300755	NONHSAT005782
9	lnc-PPIAL4B-1	chr1:144300515-144301536	ENSG00000235398
10	lnc-PPIAL4B-1	chr1:144300512-144300755	NR_109754
11	lnc-PPIAL4B-1	chr1:144301326-144301536	ENSG00000235398.4
12	lnc-PPIAL4B-1	chr1:144300512-144300755	ENSG00000235398
13	lnc-PPIAL4B-1	chr1:144301325-144301536	ENSG00000235398
14	lnc-PPIAL4B-1	chr1:144300512-144301536	NONHSAT005781
15	lnc-PPIAL4B-1	chr1:144301190-144301536	ENSG00000235398
16	lnc-PPIAL4B-1	chr1:144301190-144301536	NONHSAT005780

No data

Variant related genes	Relation type
LINC00623	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 173 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373668943	chr1:144300635-144300636	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs61802801	chr1:144301339-144301340	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs61802802	chr1:144301407-144301408	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs61802803	chr1:144301507-144301508	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs61802808	chr1:144302077-144302078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2935877	chr1:144302548-144302549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200268599	chr1:144302655-144302656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs376816473	chr1:144302656-144302657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs523540	chr1:144302714-144302715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs61802812	chr1:144302898-144302899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs587597496	chr1:144302932-144302933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs587675338	chr1:144302940-144302941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200850129	chr1:144303135-144303136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs201079696	chr1:144303148-144303149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs199728053	chr1:144303152-144303153	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201863885	chr1:144303194-144303195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:173)

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
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

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

No data

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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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