Variant report

Variant	nsv547937
Chromosome Location	chr1:153678097-153692745
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	chr1:153689854-153690094	GM12878	blood:	n/a	chr1:153689961-153689972
6	BATF	chr1:153689840-153690071	GM12878	blood:	n/a	chr1:153689961-153689972
7	BRCA1	chr1:153680550-153681789	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:153681117-153681359	IMR90	lung:	n/a	chr1:153681117-153681128
9	CEBPB	chr1:153680514-153682077	Hela-S3	cervix:	n/a	chr1:153681117-153681128
10	CEBPB	chr1:153681120-153681425	A549	lung:	n/a	n/a
11	CEBPB	chr1:153678046-153678200	HepG2	liver:	n/a	n/a
12	CEBPB	chr1:153681111-153681312	K562	blood:	n/a	chr1:153681117-153681128
13	CEBPB	chr1:153678102-153678322	K562	blood:	n/a	n/a
14	CEBPB	chr1:153681783-153682028	A549	lung:	n/a	n/a
15	CEBPB	chr1:153681144-153681400	MCF-7	breast:	n/a	n/a
16	CEBPB	chr1:153681092-153681520	A549	lung:	n/a	chr1:153681117-153681128
17	CEBPB	chr1:153681144-153681315	HepG2	liver:	n/a	n/a
18	CEBPB	chr1:153681177-153681352	K562	blood:	n/a	n/a
19	CHD2	chr1:153680625-153680639	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr1:153681038-153681352	Hela-S3	cervix:	n/a	n/a
21	CREB1	chr1:153681011-153681297	A549	lung:	n/a	n/a
22	CTCF	chr1:153691035-153691141	MCF-7	breast:	n/a	n/a
23	CTCF	chr1:153690120-153690270	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:153683786-153683875	GM13976	blood:	n/a	n/a
25	CTCF	chr1:153691062-153691140	MCF-7	breast:	n/a	n/a
26	CTCF	chr1:153680720-153680870	MCF-7	breast:	n/a	n/a
27	CUX1	chr1:153682413-153682580	K562	blood:	n/a	n/a
28	EBF1	chr1:153678880-153679087	GM12878	blood:	n/a	n/a
29	EP300	chr1:153680520-153681426	Hela-S3	cervix:	n/a	n/a
30	FOS	chr1:153681080-153681424	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr1:153688869-153688954	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr1:153691790-153691852	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr1:153691754-153691870	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr1:153688743-153688940	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr1:153681061-153681426	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr1:153678113-153678312	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr1:153688869-153688924	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr1:153678052-153678309	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr1:153681062-153681430	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr1:153681077-153681426	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr1:153678068-153678329	MCF10A-Er-Src	breast:	n/a	n/a
42	FOSL2	chr1:153680961-153681446	A549	lung:	n/a	n/a
43	FOSL2	chr1:153680966-153681425	MCF-7	breast:	n/a	n/a
44	GATA2	chr1:153680465-153681009	SH-SY5Y	brain:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
45	GATA3	chr1:153680489-153680872	MCF-7	breast:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
46	GATA3	chr1:153680178-153681471	MCF-7	breast:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
47	GATA3	chr1:153680462-153680854	T-47D	breast:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
48	GATA3	chr1:153680273-153681428	MCF-7	breast:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
49	GATA3	chr1:153680568-153680825	SH-SY5Y	brain:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614
50	GATA3	chr1:153680380-153681201	MCF-7	breast:	n/a	chr1:153680604-153680614 chr1:153680605-153680612 chr1:153680605-153680614

No.	Distal block	Cell Line	Cell type
1	chr1:153668994..153671784-chr1:153687110..153689814,2	K562	blood:
2	chr1:153679930..153682838-chr1:153699485..153702427,4	MCF-7	breast:
3	chr1:153680755..153683313-chr1:153700229..153702126,2	K562	blood:
4	chr1:153685180..153687511-chr1:153746756..153749223,2	MCF-7	breast:
5	chr1:153642439..153645279-chr1:153680616..153682934,3	MCF-7	breast:
6	chr1:153677967..153682113-chr1:153686591..153688988,3	MCF-7	breast:
7	chr1:153650435..153653664-chr1:153678187..153682235,3	MCF-7	breast:
8	chr1:153679721..153682255-chr1:153699545..153702126,2	K562	blood:
9	chr1:153679139..153682305-chr1:153689935..153694453,5	MCF-7	breast:
10	chr1:153681393..153682324-chr16:2264390..2265358,2	Hela-S3	cervix:
11	chr1:153690798..153692537-chr1:153698848..153701656,2	K562	blood:
12	chr1:153683195..153686007-chr1:153700603..153703489,3	MCF-7	breast:
13	chr1:153679572..153681343-chr1:153699326..153701642,2	MCF-7	breast:
14	chr1:153669864..153672115-chr1:153679120..153682442,3	MCF-7	breast:
15	chr1:153676052..153678273-chr1:153679043..153680683,2	MCF-7	breast:
16	chr1:153679034..153681144-chr1:153743976..153746673,2	MCF-7	breast:
17	chr1:153677967..153682113-chr1:153686591..153688988,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ILF2-1	chr1:153689779-153690298	NONHSAT006541
2	lnc-ILF2-1	chr1:153690592-153690823	NONHSAT006541

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

Extended variants
information (count: 540 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6427005	chr1:153678097-153678098	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372005825	chr1:153678174-153678175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570720287	chr1:153678190-153678191	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112769055	chr1:153678199-153678200	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530815876	chr1:153678201-153678202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569899026	chr1:153678221-153678222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200402676	chr1:153678272-153678273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538185059	chr1:153678294-153678295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142859511	chr1:153678317-153678318	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568472563	chr1:153678318-153678319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535564763	chr1:153678319-153678320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189228942	chr1:153678429-153678430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191574399	chr1:153678430-153678431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549001672	chr1:153678440-153678441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554207212	chr1:153678482-153678483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572467090	chr1:153678521-153678522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111633515	chr1:153678568-153678569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113337638	chr1:153678583-153678584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183484943	chr1:153678586-153678587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs6660232	chr1:153678621-153678622	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371393300	chr1:153678684-153678685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562322714	chr1:153678713-153678714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558026186	chr1:153678752-153678753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529727576	chr1:153678762-153678763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570504989	chr1:153678771-153678772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573994891	chr1:153678780-153678781	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560146087	chr1:153678787-153678788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571799417	chr1:153678801-153678802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150836752	chr1:153678808-153678809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs202219469	chr1:153678811-153678812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552392867	chr1:153678819-153678820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570708116	chr1:153678851-153678852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531615856	chr1:153678867-153678868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs139132275	chr1:153678895-153678896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs375942768	chr1:153678896-153678897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142460548	chr1:153678897-153678898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574418305	chr1:153678903-153678904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs57638533	chr1:153678919-153678920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147392851	chr1:153678922-153678923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11264277	chr1:153678986-153678987	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs543016985	chr1:153679024-153679025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553879712	chr1:153679040-153679041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565793033	chr1:153679074-153679075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs527272698	chr1:153679155-153679156	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs71225015	chr1:153679162-153679163	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs60100741	chr1:153679188-153679189	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs557927760	chr1:153679283-153679284	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs188422377	chr1:153679299-153679300	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs543693258	chr1:153679397-153679398	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs74572182	chr1:153679418-153679419	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	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:39 , 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	chr1:153675000-153679400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:153675200-153680600	Weak transcription	K562	blood
4	chr1:153678000-153678200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:153678200-153680600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:153679200-153679800	Enhancers	Hela-S3	cervix
7	chr1:153679800-153680200	Weak transcription	Hela-S3	cervix
8	chr1:153680200-153680600	Enhancers	Hela-S3	cervix
9	chr1:153680400-153681000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:153680400-153681600	Enhancers	Placenta	Placenta
11	chr1:153680600-153681000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:153680600-153681000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:153680600-153681000	Enhancers	Adipose Nuclei	Adipose
14	chr1:153680600-153681000	Flanking Active TSS	Hela-S3	cervix
15	chr1:153680600-153681200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:153680600-153681200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:153680600-153681200	Enhancers	HepG2	liver
18	chr1:153680600-153682000	Enhancers	A549	lung
19	chr1:153680600-153682000	Enhancers	K562	blood
20	chr1:153681000-153681200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:153681000-153681200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:153681000-153681800	Active TSS	Hela-S3	cervix
23	chr1:153681000-153683200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:153681600-153682000	Flanking Active TSS	Placenta	Placenta
25	chr1:153681800-153682000	Flanking Active TSS	Hela-S3	cervix
26	chr1:153682000-153682400	Enhancers	Hela-S3	cervix
27	chr1:153682000-153683400	Weak transcription	A549	lung
28	chr1:153682400-153683200	Weak transcription	Hela-S3	cervix
29	chr1:153683200-153683400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:153683200-153683600	Enhancers	Hela-S3	cervix
31	chr1:153683400-153683800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:153683400-153683800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:153683400-153683800	Enhancers	A549	lung
34	chr1:153683400-153683800	Active TSS	NHEK	skin
35	chr1:153687000-153687200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:153687200-153687400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:153687400-153699800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:153690200-153690400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:153690400-153699000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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