Variant report

Variant	nsv945300
Chromosome Location	chr1:220621462-220622701
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	ATF3	chr1:220621626-220621888	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr1:220621615-220621951	GM12878	blood:	n/a	n/a
3	CHD2	chr1:220621593-220621692	GM12878	blood:	n/a	n/a
4	CTCF	chr1:220622103-220622129	GM13977	blood:	n/a	n/a
5	CTCF	chr1:220622053-220622122	GM20000	blood:	n/a	n/a
6	E2F6	chr1:220621525-220622012	H1-hESC	embryonic stem cell:	n/a	n/a
7	EBF1	chr1:220621520-220621876	GM12878	blood:	n/a	n/a
8	EP300	chr1:220621713-220621913	GM12878	blood:	n/a	n/a
9	MAX	chr1:220621707-220621931	GM12878	blood:	n/a	n/a
10	MAX	chr1:220621695-220621895	H1-hESC	embryonic stem cell:	n/a	n/a
11	NFE2	chr1:220621705-220621873	GM12878	blood:	n/a	n/a
12	NFYA	chr1:220621688-220621853	GM12878	blood:	n/a	n/a
13	NFYB	chr1:220621648-220621968	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:220621731-220621850	GM12878	blood:	n/a	n/a
15	RUNX3	chr1:220621545-220621880	GM12878	blood:	n/a	n/a
16	USF1	chr1:220621578-220621909	H1-hESC	embryonic stem cell:	n/a	chr1:220621767-220621778
17	USF1	chr1:220621662-220621953	H1-hESC	embryonic stem cell:	n/a	chr1:220621767-220621778
18	USF1	chr1:220621674-220621887	SK-N-SH_RA	brain:	n/a	chr1:220621767-220621778
19	USF1	chr1:220621571-220621958	HCT-116	colon:	n/a	chr1:220621767-220621778
20	USF1	chr1:220621635-220621882	GM12878	blood:	n/a	chr1:220621767-220621778
21	USF1	chr1:220621683-220621862	HepG2	liver:	n/a	chr1:220621767-220621778
22	USF1	chr1:220621599-220621935	SK-N-SH	brain:	n/a	chr1:220621767-220621778
23	USF1	chr1:220621634-220621942	K562	blood:	n/a	chr1:220621767-220621778
24	USF1	chr1:220621696-220621861	GM12878	blood:	n/a	chr1:220621767-220621778
25	USF2	chr1:220621580-220622022	GM12878	blood:	n/a	chr1:220621767-220621778
26	USF2	chr1:220621685-220621933	Hela-S3	cervix:	n/a	chr1:220621767-220621778
27	USF2	chr1:220621661-220621854	H1-hESC	embryonic stem cell:	n/a	chr1:220621767-220621778
28	ZNF143	chr1:220621596-220621917	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000235163	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150221172	chr1:220621484-220621485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547118540	chr1:220621491-220621492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538434799	chr1:220621509-220621510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184445058	chr1:220621521-220621522	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs552547858	chr1:220621546-220621547	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569541737	chr1:220621611-220621612	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs531775260	chr1:220621615-220621616	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs548785094	chr1:220621618-220621619	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs75572368	chr1:220621634-220621635	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs138871753	chr1:220621637-220621638	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs536399127	chr1:220621677-220621678	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs554350584	chr1:220621709-220621710	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs149409231	chr1:220621744-220621745	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs6672068	chr1:220621750-220621751	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs554258285	chr1:220621755-220621756	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs73092281	chr1:220621762-220621763	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188756435	chr1:220621769-220621770	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376890347	chr1:220621782-220621783	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs555120873	chr1:220621792-220621793	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs193037610	chr1:220621805-220621806	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200044000	chr1:220621808-220621809	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200838881	chr1:220621822-220621823	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs563841819	chr1:220621939-220621940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73092282	chr1:220621942-220621943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543420859	chr1:220621949-220621950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563010009	chr1:220622003-220622004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185731234	chr1:220622042-220622043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116762162	chr1:220622050-220622051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111659440	chr1:220622052-220622053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372924097	chr1:220622062-220622063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527937639	chr1:220622095-220622096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547866547	chr1:220622096-220622097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188991568	chr1:220622105-220622106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539419218	chr1:220622116-220622117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1856434	chr1:220622247-220622248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376715924	chr1:220622309-220622310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569978216	chr1:220622316-220622317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535724937	chr1:220622367-220622368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1338774	chr1:220622393-220622394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs571861168	chr1:220622429-220622430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12408337	chr1:220622474-220622475	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181072236	chr1:220622480-220622481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1572686	chr1:220622491-220622492	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs539640891	chr1:220622557-220622558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200282846	chr1:220622562-220622563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184140540	chr1:220622601-220622602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563277274	chr1:220622611-220622612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2153130	chr1:220622671-220622672	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Liposarcoma	21253554	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	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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Ewing''s sarcoma	17952124	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220610000-220624000	Weak transcription	Fetal Heart	heart
2	chr1:220617600-220622400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:220620400-220624400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:220620600-220626800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:220621000-220622200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:220621200-220624600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:220621400-220622200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:220622200-220624600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:220622200-220624800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:220622400-220623000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:220622600-220623000	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links