Variant report

Variant	nsv945276
Chromosome Location	chr1:211341161-211348032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:211345902-211346201	K562	blood:	n/a	n/a
2	CBX3	chr1:211345872-211346292	K562	blood:	n/a	n/a
3	CBX3	chr1:211342710-211343081	K562	blood:	n/a	n/a
4	CBX3	chr1:211342178-211342503	K562	blood:	n/a	n/a
5	CEBPB	chr1:211347791-211348067	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr1:211347788-211348106	K562	blood:	n/a	n/a
7	CEBPB	chr1:211347694-211348167	HCT-116	colon:	n/a	n/a
8	CTCF	chr1:211342301-211342380	LNCaP	prostate:	n/a	n/a
9	CTCF	chr1:211346400-211346550	Caco-2	colon:	n/a	n/a
10	CTCF	chr1:211347051-211347155	LNCaP	prostate:	n/a	n/a
11	CTCF	chr1:211347147-211347171	GM20000	blood:	n/a	n/a
12	E2F4	chr1:211347774-211348153	MCF10A-Er-Src	breast:	n/a	n/a
13	EBF1	chr1:211347799-211348023	GM12878	blood:	n/a	n/a
14	FOS	chr1:211347707-211348318	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr1:211347520-211348132	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr1:211347486-211348121	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:211347486-211348114	MCF10A-Er-Src	breast:	n/a	n/a
18	IRF1	chr1:211345375-211345407	K562	blood:	n/a	n/a
19	KAP1	chr1:211342203-211342510	HEK293	kidney:	n/a	n/a
20	KAP1	chr1:211342222-211343212	K562	blood:	n/a	n/a
21	KAP1	chr1:211345127-211346777	K562	blood:	n/a	n/a
22	MYC	chr1:211347763-211348140	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr1:211347752-211348166	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr1:211342556-211342594	H1-hESC	embryonic stem cell:	n/a	n/a
25	NRF1	chr1:211342841-211342856	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:211348026-211348030	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr1:211347048-211347196	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:211347032-211347211	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:211346181-211346245	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr1:211347039-211347201	H1-hESC	embryonic stem cell:	n/a	n/a
31	SETDB1	chr1:211342212-211343078	U2OS	brain:	n/a	n/a
32	SETDB1	chr1:211345944-211346450	U2OS	brain:	n/a	n/a
33	STAT3	chr1:211347760-211348088	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr1:211342700-211342715	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr1:211347819-211348039	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr1:211347730-211348102	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr1:211345928-211346062	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr1:211347714-211348092	MCF10A-Er-Src	breast:	n/a	n/a
39	TRIM28	chr1:211345899-211346331	K562	blood:	n/a	n/a
40	ZNF143	chr1:211346008-211346213	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZNF143	chr1:211342305-211342522	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZNF384	chr1:211345218-211345260	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:211345235..211346801-chr1:211349062..211351006,2	K562	blood:
2	chr1:210544293..210545874-chr1:211345098..211346708,2	MCF-7	breast:
3	chr1:211344431..211346604-chr1:211431429..211433331,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234004	TF binding region
ENSG00000117625	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111589935	chr1:211342004-211342005	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs542070111	chr1:211342038-211342039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs56770777	chr1:211342076-211342077	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs181435180	chr1:211342114-211342115	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1577987	chr1:211342123-211342124	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs3120777	chr1:211342148-211342149	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545353032	chr1:211342150-211342151	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563328006	chr1:211342172-211342173	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530841232	chr1:211342215-211342216	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs186956596	chr1:211342217-211342218	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs535795313	chr1:211342246-211342247	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs528639519	chr1:211342251-211342252	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs546898382	chr1:211342273-211342274	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs571874443	chr1:211342274-211342275	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs538946871	chr1:211342285-211342286	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs11119698	chr1:211342286-211342287	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4951727	chr1:211342290-211342291	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs61848648	chr1:211342327-211342328	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554667719	chr1:211342379-211342380	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190319654	chr1:211342380-211342381	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs182917999	chr1:211342427-211342428	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs558491598	chr1:211342464-211342465	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs3111223	chr1:211342486-211342487	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544159080	chr1:211342537-211342538	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs187635073	chr1:211342550-211342551	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs575225105	chr1:211342551-211342552	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542614934	chr1:211342576-211342577	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs561019463	chr1:211342579-211342580	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs528591301	chr1:211342597-211342598	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs3111224	chr1:211342609-211342610	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs78657193	chr1:211342633-211342634	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs190995024	chr1:211342708-211342709	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs150209275	chr1:211342724-211342725	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs138591489	chr1:211342735-211342736	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs35898964	chr1:211342754-211342755	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs569425474	chr1:211342777-211342778	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs536209827	chr1:211342781-211342782	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538571246	chr1:211342858-211342859	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs548231837	chr1:211342867-211342868	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs562507992	chr1:211342875-211342876	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs566528897	chr1:211342892-211342893	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs117081469	chr1:211342959-211342960	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs149296944	chr1:211343000-211343001	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs576960944	chr1:211343013-211343014	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs558172322	chr1:211343066-211343067	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs538085410	chr1:211343098-211343099	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs555993295	chr1:211343106-211343107	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs574412750	chr1:211343151-211343152	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs113537168	chr1:211343168-211343169	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs542577679	chr1:211343221-211343222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211342000-211342600	Active TSS	Primary T cells from cord blood	blood
2	chr1:211342400-211342600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:211342400-211342800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:211342600-211342800	ZNF genes & repeats	Primary T cells from cord blood	blood
5	chr1:211342600-211344200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:211342800-211348800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:211344800-211348200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:211347400-211347800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:211347400-211348000	Enhancers	HMEC	breast
10	chr1:211347400-211348200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:211347400-211348200	Enhancers	NHEK	skin
12	chr1:211347600-211348000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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