Variant report

Variant	nsv520206
Chromosome Location	chr1:165903962-165913774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:489)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:165912383-165912758	GM12878	blood:	n/a	n/a
2	BACH1	chr1:165912444-165912745	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr1:165912421-165912695	GM12878	blood:	n/a	n/a
4	BATF	chr1:165912431-165912779	GM12878	blood:	n/a	n/a
5	BCL11A	chr1:165912462-165912775	GM12878	blood:	n/a	chr1:165912601-165912610
6	BCL3	chr1:165912519-165912717	GM12878	blood:	n/a	chr1:165912601-165912610
7	CHD2	chr1:165908170-165908279	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:165912580-165912730	HRE	kidney:	n/a	n/a
9	CTCF	chr1:165912580-165912730	HEK293	kidney:	n/a	n/a
10	CTCF	chr1:165912580-165912730	NHEK	skin:	n/a	n/a
11	CTCF	chr1:165912680-165912830	HCM	heart:	n/a	n/a
12	CTCF	chr1:165912540-165912690	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:165912660-165912810	GM12872	blood:	n/a	n/a
14	CTCF	chr1:165912540-165912690	AG10803	skin:	n/a	n/a
15	CTCF	chr1:165912640-165912790	GM12867	blood:	n/a	n/a
16	CTCF	chr1:165912640-165912790	GM12878	blood:	n/a	n/a
17	CTCF	chr1:165912643-165912722	GM13976	blood:	n/a	n/a
18	CTCF	chr1:165912580-165912730	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr1:165912628-165912800	K562	blood:	n/a	n/a
20	CTCF	chr1:165912620-165912770	HCFaa	heart:	n/a	n/a
21	CTCF	chr1:165912660-165912810	GM06990	blood:	n/a	n/a
22	CTCF	chr1:165912600-165912750	A549	lung:	n/a	n/a
23	CTCF	chr1:165912460-165912610	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr1:165910600-165910750	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr1:165912620-165912770	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr1:165912500-165912650	GM12865	blood:	n/a	n/a
27	CTCF	chr1:165912620-165912770	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr1:165912560-165912710	K562	blood:	n/a	n/a
29	CTCF	chr1:165912608-165912751	GM12878	blood:	n/a	n/a
30	CTCF	chr1:165912600-165912750	GM12871	blood:	n/a	n/a
31	CTCF	chr1:165912660-165912810	RPTEC	kidney:	n/a	n/a
32	CTCF	chr1:165912640-165912790	HVMF	connective:	n/a	n/a
33	CTCF	chr1:165912560-165912710	GM12873	blood:	n/a	n/a
34	CTCF	chr1:165912499-165912865	GM12878	blood:	n/a	n/a
35	CTCF	chr1:165912560-165912710	GM12869	blood:	n/a	n/a
36	CTCF	chr1:165912600-165912750	AoAF	blood vessel:	n/a	n/a
37	CTCF	chr1:165912580-165912730	HCM	heart:	n/a	n/a
38	CTCF	chr1:165912600-165912830	GM12874	blood:	n/a	n/a
39	CTCF	chr1:165912640-165912790	HFF	foreskin:	n/a	n/a
40	CTCF	chr1:165912600-165912750	GM12865	blood:	n/a	n/a
41	CTCF	chr1:165912620-165912770	AG04450	lung:	n/a	n/a
42	CTCF	chr1:165912520-165912670	GM12864	blood:	n/a	n/a
43	CTCF	chr1:165912560-165912710	GM12875	blood:	n/a	n/a
44	CTCF	chr1:165912440-165912590	HAc	cerebellar:	n/a	n/a
45	CTCF	chr1:165912560-165912710	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr1:165912560-165912710	GM12872	blood:	n/a	n/a
47	CTCF	chr1:165912620-165912770	RPTEC	kidney:	n/a	n/a
48	CTCF	chr1:165912600-165912750	MCF-7	breast:	n/a	n/a
49	CTCF	chr1:165912580-165912830	BE2_C	brain:	n/a	n/a
50	CTCF	chr1:165912600-165912750	NHDF-neo	bronchial:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:165907859-165907909	MCF-7	breast:	n/a
2	chr1:165907859-165907909	MCF-7	breast:	n/a
3	chr1:165910731-165910781	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:165907859-165907909	HCT-116	colon:	n/a
5	chr1:165910821-165910871	HIPEpiC	eye:	n/a
6	chr1:165910942-165910992	Hepatocyte	liver:	n/a
7	chr1:165910641-165910691	NHBE	bronchial:	n/a
8	chr1:165910516-165910566	SK-N-MC	brain:	n/a
9	chr1:165910731-165910781	HEEpiC	esophagus:	n/a
10	chr1:165910641-165910691	MCF10A-Er-Src	breast:	n/a
11	chr1:165910821-165910871	MCF-7	breast:	n/a
12	chr1:165910516-165910566	HNPCEpiC	eye:	n/a
13	chr1:165910641-165910691	SKMC	muscle:	n/a
14	chr1:165910641-165910691	H1-hESC	embryonic stem cell:	embryo
15	chr1:165910731-165910781	LNCaP	prostate:	n/a
16	chr1:165910942-165910992	SK-N-MC	brain:	n/a
17	chr1:165910821-165910871	ECC-1	luminal epithelium:	n/a
18	chr1:165907859-165907909	SK-N-MC	brain:	n/a
19	chr1:165910821-165910871	HEEpiC	esophagus:	n/a
20	chr1:165910759-165910809	HNPCEpiC	eye:	n/a
21	chr1:165910731-165910781	HUVEC	blood vessel:	n/a
22	chr1:165910821-165910871	AoSMC	blood vessel:	n/a
23	chr1:165912313-165912363	Hela-S3	cervix:	n/a
24	chr1:165910641-165910691	K562	blood:	n/a
25	chr1:165910641-165910691	Caco-2	colon:	n/a
26	chr1:165910942-165910992	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:165910731-165910781	AG04449	skin:	fetal
28	chr1:165907859-165907909	HRE	kidney:	n/a
29	chr1:165910516-165910566	HCF	heart:	n/a
30	chr1:165910821-165910871	NHDF-neo	bronchial:	n/a
31	chr1:165910731-165910781	SAEC	small airway:	n/a
32	chr1:165910641-165910691	AoSMC	blood vessel:	n/a
33	chr1:165912313-165912363	GM12878	blood:	n/a
34	chr1:165910821-165910871	RPTEC	kidney:	n/a
35	chr1:165910821-165910871	NH-A	brain:	n/a
36	chr1:165910821-165910871	HCF	heart:	n/a
37	chr1:165907859-165907909	HUVEC	blood vessel:	n/a
38	chr1:165910821-165910871	HRCEpiC	kidney:	n/a
39	chr1:165910759-165910809	HL-60	blood:	n/a
40	chr1:165910731-165910781	HL-60	blood:	n/a
41	chr1:165910942-165910992	H1-hESC	embryonic stem cell:	embryo
42	chr1:165912313-165912363	HUVEC	blood vessel:	n/a
43	chr1:165910759-165910809	CMK	blood:	n/a
44	chr1:165912313-165912363	AoSMC	blood vessel:	n/a
45	chr1:165912313-165912363	IMR90	lung:	fetal
46	chr1:165910759-165910809	Hepatocyte	liver:	n/a
47	chr1:165912313-165912363	HEEpiC	esophagus:	n/a
48	chr1:165910821-165910871	HCT-116	colon:	n/a
49	chr1:165910641-165910691	AG04449	skin:	fetal
50	chr1:165910516-165910566	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165904289..165907222-chr1:165909340..165911329,2	K562	blood:
2	chr1:165913492..165915109-chr1:165916340..165918396,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM78B-4	chr1:165910472-165911006	NONHSAT007346

No data

Variant related genes	Relation type
ENSG00000271527	TF binding region
ENSG00000271527	CpG island
ENSG00000271527	chromatin interactions

Extended variants
information (count: 407 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2349106	chr1:165903962-165903963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115878596	chr1:165903978-165903979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576290500	chr1:165904004-165904005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541798834	chr1:165904091-165904092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146014962	chr1:165904100-165904101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138915062	chr1:165904126-165904127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142859385	chr1:165904154-165904155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61269003	chr1:165904231-165904232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376527625	chr1:165904238-165904239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541142519	chr1:165904259-165904260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548848400	chr1:165904263-165904264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577752433	chr1:165904284-165904285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543563323	chr1:165904332-165904333	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563575239	chr1:165904350-165904351	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1317631	chr1:165904360-165904361	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549013175	chr1:165904361-165904362	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559374570	chr1:165904397-165904398	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528219671	chr1:165904398-165904399	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551186241	chr1:165904406-165904407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571069295	chr1:165904455-165904456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539657469	chr1:165904466-165904467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181382223	chr1:165904474-165904475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570036729	chr1:165904483-165904484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186754196	chr1:165904613-165904614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143614594	chr1:165904619-165904620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191147747	chr1:165904622-165904623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7525707	chr1:165904700-165904701	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs557980021	chr1:165904712-165904713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575319084	chr1:165904718-165904719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79797438	chr1:165904722-165904723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147265700	chr1:165904726-165904727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543271915	chr1:165904766-165904767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77573586	chr1:165904794-165904795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574016318	chr1:165904803-165904804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542919207	chr1:165904887-165904888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34075422	chr1:165904902-165904903	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141634836	chr1:165904943-165904944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150534057	chr1:165904944-165904945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564836660	chr1:165904955-165904956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139879801	chr1:165904956-165904957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549978473	chr1:165904996-165904997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569899963	chr1:165905022-165905023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544288782	chr1:165905032-165905033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529573105	chr1:165905082-165905083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142940476	chr1:165905126-165905127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs548929886	chr1:165905174-165905175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568046799	chr1:165905215-165905216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572401691	chr1:165905250-165905251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534711722	chr1:165905259-165905260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533811173	chr1:165905274-165905275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
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
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165902400-165904000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:165902600-165904000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:165902600-165904400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:165902800-165904000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:165904400-165912000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:165906600-165906800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:165906800-165910600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:165910400-165913000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:165910600-165911000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:165910600-165912200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:165911000-165913000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:165911400-165911600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:165911600-165912400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:165911600-165913000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:165911800-165913000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:165911800-165913000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:165911800-165913000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:165912000-165912200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:165912000-165912400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:165912000-165912600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:165912000-165913000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:165912200-165912800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:165912200-165913000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:165912200-165916600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:165912400-165912600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:165912400-165913000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr1:165912400-165913000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:165912800-165913000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:165912800-165913000	Enhancers	GM12878-XiMat	blood
30	chr1:165913000-165913800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:165913000-165914000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:165913000-165914400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:165913000-165915600	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links