Variant report

Variant	nsv514010
Chromosome Location	chr1:153674640-153690704
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	ARID3A	chr1:153681205-153681214	K562	blood:	n/a	n/a
2	ATF1	chr1:153681171-153681275	K562	blood:	n/a	n/a
3	ATF3	chr1:153688756-153688956	K562	blood:	n/a	n/a
4	BACH1	chr1:153681860-153681933	K562	blood:	n/a	n/a
5	BATF	chr1:153689840-153690071	GM12878	blood:	n/a	chr1:153689961-153689972
6	BATF	chr1:153689854-153690094	GM12878	blood:	n/a	chr1:153689961-153689972
7	BRCA1	chr1:153680550-153681789	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:153678046-153678200	HepG2	liver:	n/a	n/a
9	CEBPB	chr1:153681092-153681520	A549	lung:	n/a	chr1:153681117-153681128
10	CEBPB	chr1:153681783-153682028	A549	lung:	n/a	n/a
11	CEBPB	chr1:153681177-153681352	K562	blood:	n/a	n/a
12	CEBPB	chr1:153681111-153681312	K562	blood:	n/a	chr1:153681117-153681128
13	CEBPB	chr1:153681117-153681359	IMR90	lung:	n/a	chr1:153681117-153681128
14	CEBPB	chr1:153678102-153678322	K562	blood:	n/a	n/a
15	CEBPB	chr1:153680514-153682077	Hela-S3	cervix:	n/a	chr1:153681117-153681128
16	CEBPB	chr1:153681144-153681400	MCF-7	breast:	n/a	n/a
17	CEBPB	chr1:153681144-153681315	HepG2	liver:	n/a	n/a
18	CEBPB	chr1:153681120-153681425	A549	lung:	n/a	n/a
19	CHD2	chr1:153681038-153681352	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr1:153680625-153680639	Hela-S3	cervix:	n/a	n/a
21	CREB1	chr1:153681011-153681297	A549	lung:	n/a	n/a
22	CTCF	chr1:153690120-153690270	MCF-7	breast:	n/a	n/a
23	CTCF	chr1:153680720-153680870	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:153675482-153675525	GM13976	blood:	n/a	n/a
25	CTCF	chr1:153683786-153683875	GM13976	blood:	n/a	n/a
26	CUX1	chr1:153682413-153682580	K562	blood:	n/a	n/a
27	EBF1	chr1:153678880-153679087	GM12878	blood:	n/a	n/a
28	EP300	chr1:153680520-153681426	Hela-S3	cervix:	n/a	n/a
29	FOS	chr1:153678068-153678329	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr1:153678052-153678309	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr1:153681080-153681424	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr1:153681062-153681430	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr1:153678113-153678312	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr1:153681061-153681426	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr1:153688743-153688940	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr1:153681077-153681426	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr1:153688869-153688924	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr1:153688869-153688954	MCF10A-Er-Src	breast:	n/a	n/a
39	FOSL2	chr1:153680961-153681446	A549	lung:	n/a	n/a
40	FOSL2	chr1:153680966-153681425	MCF-7	breast:	n/a	n/a
41	GATA2	chr1:153680465-153681009	SH-SY5Y	brain:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
42	GATA3	chr1:153680568-153680825	SH-SY5Y	brain:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
43	GATA3	chr1:153680462-153680854	T-47D	breast:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
44	GATA3	chr1:153680477-153680824	T-47D	breast:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
45	GATA3	chr1:153680380-153681201	MCF-7	breast:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
46	GATA3	chr1:153680489-153680872	MCF-7	breast:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
47	GATA3	chr1:153680273-153681428	MCF-7	breast:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
48	GATA3	chr1:153680178-153681471	MCF-7	breast:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
49	GTF2F1	chr1:153680967-153681347	Hela-S3	cervix:	n/a	n/a
50	GTF2F1	chr1:153681661-153681983	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153669943..153671545-chr1:153672210..153674806,2	K562	blood:
2	chr1:153677967..153682113-chr1:153686591..153688988,3	MCF-7	breast:
3	chr1:153679139..153682305-chr1:153689935..153694453,5	MCF-7	breast:
4	chr1:153679034..153681144-chr1:153743976..153746673,2	MCF-7	breast:
5	chr1:153685180..153687511-chr1:153746756..153749223,2	MCF-7	breast:
6	chr1:153679572..153681343-chr1:153699326..153701642,2	MCF-7	breast:
7	chr1:153642439..153645279-chr1:153680616..153682934,3	MCF-7	breast:
8	chr1:153650435..153653664-chr1:153678187..153682235,3	MCF-7	breast:
9	chr1:153668994..153671784-chr1:153687110..153689814,2	K562	blood:
10	chr1:153677967..153682113-chr1:153686591..153688988,3	MCF-7	breast:
11	chr1:153669864..153672115-chr1:153679120..153682442,3	MCF-7	breast:
12	chr1:153681393..153682324-chr16:2264390..2265358,2	Hela-S3	cervix:
13	chr1:153676052..153678273-chr1:153679043..153680683,2	MCF-7	breast:
14	chr1:153680755..153683313-chr1:153700229..153702126,2	K562	blood:
15	chr1:153683195..153686007-chr1:153700603..153703489,3	MCF-7	breast:
16	chr1:153679930..153682838-chr1:153699485..153702427,4	MCF-7	breast:
17	chr1:153679721..153682255-chr1:153699545..153702126,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ILF2-1	chr1:153689779-153690298	NONHSAT006541
2	lnc-ILF2-1	chr1:153690592-153690823	NONHSAT006541
3	lnc-NPR1-1	chr1:153676564-153676859	NONHSAT006540

Variant related genes	Relation type
RN7SL372P	TF binding region
ENSG00000235015	chromatin interactions
ENSG00000169418	chromatin interactions
ENSG00000184207	chromatin interactions
ENSG00000143554	chromatin interactions
ENSG00000143621	chromatin interactions
ENSG00000242565	chromatin interactions
ENSG00000143624	chromatin interactions

Extended variants
information (count: 603 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:603 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34607389	chr1:153674655-153674656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530719507	chr1:153674662-153674663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548927759	chr1:153674663-153674664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561169350	chr1:153674668-153674669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7516222	chr1:153674704-153674705	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546804241	chr1:153674726-153674727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376868038	chr1:153674738-153674739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571793245	chr1:153674753-153674754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539199133	chr1:153674760-153674761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11308795	chr1:153674788-153674789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374371541	chr1:153674791-153674792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572374826	chr1:153674846-153674847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569524251	chr1:153674880-153674881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371892848	chr1:153674932-153674933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536954521	chr1:153674943-153674944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555332446	chr1:153674998-153674999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573601951	chr1:153675012-153675013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144737468	chr1:153675050-153675051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552759748	chr1:153675055-153675056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547646370	chr1:153675062-153675063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570620730	chr1:153675086-153675087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183494209	chr1:153675136-153675137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556749564	chr1:153675146-153675147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550848366	chr1:153675174-153675175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542605635	chr1:153675185-153675186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112692478	chr1:153675213-153675214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111814087	chr1:153675230-153675231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201745373	chr1:153675261-153675262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188215893	chr1:153675263-153675264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534900334	chr1:153675282-153675283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144395006	chr1:153675323-153675324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111590494	chr1:153675362-153675363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71584131	chr1:153675363-153675364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9725533	chr1:153675372-153675373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9727734	chr1:153675373-153675374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551154209	chr1:153675410-153675411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4845566	chr1:153675433-153675434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs181796331	chr1:153675439-153675440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548635291	chr1:153675455-153675456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567170091	chr1:153675456-153675457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534295165	chr1:153675474-153675475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12733792	chr1:153675485-153675486	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs552938592	chr1:153675524-153675525	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs57314764	chr1:153675529-153675530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs538389855	chr1:153675550-153675551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72711048	chr1:153675556-153675557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs575127004	chr1:153675564-153675565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542889348	chr1:153675570-153675571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554531002	chr1:153675614-153675615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573111537	chr1:153675615-153675616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Retinoblastoma	19183342	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
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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153671600-153678200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:153672000-153674800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:153672000-153675200	Weak transcription	Right Atrium	heart
4	chr1:153674600-153675200	Enhancers	K562	blood
5	chr1:153674800-153675000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:153675000-153679400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:153675200-153680600	Weak transcription	K562	blood
8	chr1:153678000-153678200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:153678200-153680600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:153679200-153679800	Enhancers	Hela-S3	cervix
11	chr1:153679800-153680200	Weak transcription	Hela-S3	cervix
12	chr1:153680200-153680600	Enhancers	Hela-S3	cervix
13	chr1:153680400-153681000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:153680400-153681600	Enhancers	Placenta	Placenta
15	chr1:153680600-153681000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:153680600-153681000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:153680600-153681000	Enhancers	Adipose Nuclei	Adipose
18	chr1:153680600-153681000	Flanking Active TSS	Hela-S3	cervix
19	chr1:153680600-153681200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:153680600-153681200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:153680600-153681200	Enhancers	HepG2	liver
22	chr1:153680600-153682000	Enhancers	A549	lung
23	chr1:153680600-153682000	Enhancers	K562	blood
24	chr1:153681000-153681200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:153681000-153681200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:153681000-153681800	Active TSS	Hela-S3	cervix
27	chr1:153681000-153683200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:153681600-153682000	Flanking Active TSS	Placenta	Placenta
29	chr1:153681800-153682000	Flanking Active TSS	Hela-S3	cervix
30	chr1:153682000-153682400	Enhancers	Hela-S3	cervix
31	chr1:153682000-153683400	Weak transcription	A549	lung
32	chr1:153682400-153683200	Weak transcription	Hela-S3	cervix
33	chr1:153683200-153683400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:153683200-153683600	Enhancers	Hela-S3	cervix
35	chr1:153683400-153683800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:153683400-153683800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:153683400-153683800	Enhancers	A549	lung
38	chr1:153683400-153683800	Active TSS	NHEK	skin
39	chr1:153687000-153687200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:153687200-153687400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:153687400-153699800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:153690200-153690400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:153690400-153699000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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