Variant report

Variant	nsv945416
Chromosome Location	chr1:243038818-243054413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:134)
CpG islands
(count:368)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:134 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:243053418-243053739	K562	blood:	n/a	n/a
2	CTCF	chr1:243053422-243053468	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr1:243049620-243049764	GM19238	blood:	n/a	n/a
4	CTCF	chr1:243051220-243051281	LNCaP	prostate:	n/a	n/a
5	CTCF	chr1:243043213-243043217	K562	blood:	n/a	n/a
6	CTCF	chr1:243048840-243048896	Medullo	brain:	n/a	n/a
7	CTCF	chr1:243041160-243041310	GM12871	blood:	n/a	n/a
8	CTCF	chr1:243049789-243049809	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:243050042-243050083	Lung_OC	lung:	n/a	n/a
10	CTCF	chr1:243046760-243046910	GM12865	blood:	n/a	n/a
11	CTCF	chr1:243045608-243045642	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr1:243045520-243045670	GM12865	blood:	n/a	n/a
13	CTCF	chr1:243049352-243049415	GM20000	blood:	n/a	n/a
14	CUX1	chr1:243044019-243044043	GM12878	blood:	n/a	n/a
15	E2F4	chr1:243039380-243039494	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F6	chr1:243053729-243054085	H1-hESC	embryonic stem cell:	n/a	chr1:243054005-243054014
17	E2F6	chr1:243053621-243054020	H1-hESC	embryonic stem cell:	n/a	chr1:243054005-243054014
18	E2F6	chr1:243053535-243053735	K562	blood:	n/a	n/a
19	EGR1	chr1:243053500-243053707	K562	blood:	n/a	n/a
20	EGR1	chr1:243053453-243053705	K562	blood:	n/a	n/a
21	ELF1	chr1:243049482-243049683	HepG2	liver:	n/a	n/a
22	EP300	chr1:243039210-243039769	A549	lung:	n/a	chr1:243039235-243039249
23	EP300	chr1:243049431-243049849	A549	lung:	n/a	n/a
24	EP300	chr1:243039275-243039713	A549	lung:	n/a	n/a
25	FOS	chr1:243049965-243050227	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr1:243039549-243039586	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr1:243039397-243039613	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr1:243039413-243039612	MCF10A-Er-Src	breast:	n/a	n/a
29	FOSL2	chr1:243039332-243039639	A549	lung:	n/a	n/a
30	FOSL2	chr1:243039183-243039692	A549	lung:	n/a	n/a
31	FOXA1	chr1:243049462-243049806	HepG2	liver:	n/a	n/a
32	FOXA1	chr1:243049296-243049709	HepG2	liver:	n/a	n/a
33	FOXA1	chr1:243049283-243049646	HepG2	liver:	n/a	n/a
34	FOXA2	chr1:243049450-243049611	HepG2	liver:	n/a	n/a
35	FOXA2	chr1:243049469-243049846	A549	lung:	n/a	n/a
36	FOXA2	chr1:243039241-243039788	A549	lung:	n/a	n/a
37	FOXA2	chr1:243049301-243049817	A549	lung:	n/a	n/a
38	FOXA2	chr1:243039185-243039796	A549	lung:	n/a	n/a
39	FOXA2	chr1:243042379-243042605	A549	lung:	n/a	n/a
40	GABPA	chr1:243049538-243049705	HepG2	liver:	n/a	n/a
41	GABPA	chr1:243049552-243049701	HepG2	liver:	n/a	n/a
42	HDAC2	chr1:243053515-243053816	H1-hESC	embryonic stem cell:	n/a	chr1:243053602-243053621
43	MAX	chr1:243053398-243053877	ECC-1	luminal epithelium:	n/a	chr1:243053472-243053481
44	MAX	chr1:243053550-243053793	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr1:243053815-243054044	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr1:243053550-243054087	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr1:243053383-243053774	K562	blood:	n/a	chr1:243053472-243053481
48	MAX	chr1:243049382-243049884	A549	lung:	n/a	n/a
49	MAX	chr1:243053516-243053697	K562	blood:	n/a	n/a
50	MAX	chr1:243053528-243053723	H1-hESC	embryonic stem cell:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:243053865-243053915	NH-A	brain:	n/a
2	chr1:243053425-243053475	SAEC	small airway:	n/a
3	chr1:243053865-243053915	NH-A	brain:	n/a
4	chr1:243053425-243053475	SAEC	small airway:	n/a
5	chr1:243054071-243054121	HCT-116	colon:	n/a
6	chr1:243053934-243053984	LNCaP	prostate:	n/a
7	chr1:243054071-243054121	K562	blood:	n/a
8	chr1:243054071-243054121	ProgFib	skin:	n/a
9	chr1:243054071-243054121	HCM	heart:	n/a
10	chr1:243054071-243054121	HEEpiC	esophagus:	n/a
11	chr1:243053425-243053475	HMEC	breast:	n/a
12	chr1:243050875-243050925	PFSK-1	brain:	n/a
13	chr1:243053934-243053984	HAEpiC	amniotic membrane:	n/a
14	chr1:243053425-243053475	PFSK-1	brain:	n/a
15	chr1:243054071-243054121	HEK293	kidney:	embryo
16	chr1:243053673-243053723	AG04450	lung:	fetal
17	chr1:243053425-243053475	GM12892	blood:	n/a
18	chr1:243053673-243053723	ovcar-3	ovarian:	n/a
19	chr1:243053425-243053475	AG04449	skin:	fetal
20	chr1:243053673-243053723	HRE	kidney:	n/a
21	chr1:243053425-243053475	T-47D	breast:	n/a
22	chr1:243053865-243053915	MCF-7	breast:	n/a
23	chr1:243050875-243050925	BJ	skin:	n/a
24	chr1:243053673-243053723	Caco-2	colon:	n/a
25	chr1:243053673-243053723	HCT-116	colon:	n/a
26	chr1:243050875-243050925	ProgFib	skin:	n/a
27	chr1:243050875-243050925	HCM	heart:	n/a
28	chr1:243053673-243053723	HUVEC	blood vessel:	n/a
29	chr1:243053425-243053475	RPTEC	kidney:	n/a
30	chr1:243054071-243054121	SKMC	muscle:	n/a
31	chr1:243053673-243053723	HNPCEpiC	eye:	n/a
32	chr1:243050875-243050925	Caco-2	colon:	n/a
33	chr1:243050875-243050925	GM19239	blood:	n/a
34	chr1:243053865-243053915	PANC-1	pancreas:	n/a
35	chr1:243053673-243053723	Jurkat	blood:	n/a
36	chr1:243054071-243054121	HRE	kidney:	n/a
37	chr1:243053865-243053915	PFSK-1	brain:	n/a
38	chr1:243050875-243050925	HCPEpiC	choroid plexus:	n/a
39	chr1:243050875-243050925	HUVEC	blood vessel:	n/a
40	chr1:243053934-243053984	AG09319	gingival:	n/a
41	chr1:243054071-243054121	Hela-S3	cervix:	n/a
42	chr1:243053425-243053475	AoSMC	blood vessel:	n/a
43	chr1:243053865-243053915	NHBE	bronchial:	n/a
44	chr1:243053934-243053984	GM12892	blood:	n/a
45	chr1:243053934-243053984	GM12891	blood:	n/a
46	chr1:243053425-243053475	CMK	blood:	n/a
47	chr1:243050875-243050925	HRCEpiC	kidney:	n/a
48	chr1:243053934-243053984	AG10803	skin:	n/a
49	chr1:243053934-243053984	U87	brain:	n/a
50	chr1:243053673-243053723	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:243028922..243031643-chr1:243036505..243039074,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270818	TF binding region
ENSG00000270818	CpG island

Extended variants
information (count: 608 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:608 , 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	rs148257296	chr1:243038846-243038847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564881526	chr1:243038858-243038859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148866341	chr1:243038925-243038926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184964038	chr1:243038929-243038930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77646274	chr1:243038948-243038949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77919908	chr1:243038983-243038984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561005829	chr1:243038995-243038996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529778185	chr1:243039066-243039067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150383068	chr1:243039072-243039073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189811884	chr1:243039083-243039084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200063000	chr1:243039102-243039103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552415050	chr1:243039139-243039140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568917089	chr1:243039163-243039164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537899380	chr1:243039167-243039168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554535874	chr1:243039218-243039219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574871705	chr1:243039224-243039225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568502521	chr1:243039230-243039231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200704961	chr1:243039240-243039241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534278965	chr1:243039243-243039244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74895380	chr1:243039244-243039245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79830397	chr1:243039245-243039246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552915228	chr1:243039260-243039261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76274401	chr1:243039271-243039272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547269255	chr1:243039281-243039282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4488014	chr1:243039292-243039293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575600269	chr1:243039293-243039294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544259672	chr1:243039440-243039441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114281389	chr1:243039448-243039449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529771261	chr1:243039462-243039463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142629257	chr1:243039476-243039477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76524089	chr1:243039486-243039487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532694393	chr1:243039499-243039500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181710952	chr1:243039512-243039513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569253725	chr1:243039542-243039543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367698505	chr1:243039544-243039545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146309831	chr1:243039605-243039606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115240090	chr1:243039613-243039614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568416689	chr1:243039614-243039615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534050199	chr1:243039618-243039619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554190702	chr1:243039619-243039620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74520552	chr1:243039665-243039666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61840235	chr1:243039677-243039678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184456323	chr1:243039703-243039704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116256090	chr1:243039706-243039707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374107240	chr1:243039730-243039731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575635017	chr1:243039762-243039763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10926901	chr1:243039768-243039769	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563232823	chr1:243039995-243039996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138172752	chr1:243040029-243040030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530308743	chr1:243040065-243040066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:243033200-243042200	Enhancers	Fetal Heart	heart
2	chr1:243036800-243039200	Weak transcription	Left Ventricle	heart
3	chr1:243038200-243039600	Enhancers	A549	lung
4	chr1:243039200-243042200	Enhancers	Left Ventricle	heart
5	chr1:243039400-243039600	Enhancers	Right Atrium	heart
6	chr1:243039600-243040000	Weak transcription	A549	lung
7	chr1:243039600-243040600	Weak transcription	Right Atrium	heart
8	chr1:243040000-243041400	Enhancers	A549	lung
9	chr1:243040200-243041000	Enhancers	Pancreas	Pancrea
10	chr1:243040200-243041400	Enhancers	K562	blood
11	chr1:243040600-243041000	Enhancers	Right Atrium	heart
12	chr1:243040600-243041000	Enhancers	Right Ventricle	heart
13	chr1:243040800-243041000	Bivalent Enhancer	Hela-S3	cervix
14	chr1:243040800-243042200	Enhancers	Liver	Liver
15	chr1:243041000-243043800	Weak transcription	Right Atrium	heart
16	chr1:243041000-243046600	Weak transcription	Pancreas	Pancrea
17	chr1:243041800-243042200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:243042000-243042600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr1:243042200-243044400	Weak transcription	Fetal Heart	heart
20	chr1:243044400-243045400	Enhancers	Fetal Heart	heart
21	chr1:243046600-243046800	Enhancers	Pancreas	Pancrea
22	chr1:243046800-243053600	Weak transcription	Pancreas	Pancrea
23	chr1:243047200-243049000	Weak transcription	A549	lung
24	chr1:243049000-243049200	Enhancers	A549	lung
25	chr1:243049200-243049800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:243049200-243049800	Enhancers	Liver	Liver
27	chr1:243049200-243049800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:243049200-243049800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:243049200-243049800	Flanking Active TSS	A549	lung
30	chr1:243049200-243049800	Enhancers	HepG2	liver
31	chr1:243049600-243049800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:243049800-243050600	Enhancers	A549	lung
33	chr1:243049800-243053600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:243049800-243053600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:243050600-243051800	Weak transcription	A549	lung
36	chr1:243053400-243053600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:243053600-243053800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:243053600-243054000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr1:243053600-243054000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr1:243053600-243054000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:243053600-243054000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:243053600-243054000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:243053600-243054000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:243053600-243054000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:243053600-243054000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr1:243053600-243054000	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr1:243053600-243054000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:243053600-243054000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:243053600-243054000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
50	chr1:243053600-243054000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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