Variant report

Variant	nsv947226
Chromosome Location	chr1:242953971-243049286
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	ATF2	chr1:242976778-242977056	GM12878	blood:	n/a	n/a
2	BACH1	chr1:242996994-242996997	K562	blood:	n/a	n/a
3	BCL11A	chr1:242976760-242977140	GM12878	blood:	n/a	chr1:242976959-242976968
4	BCL11A	chr1:242976721-242977165	GM12878	blood:	n/a	chr1:242976959-242976968
5	BHLHE40	chr1:243031757-243031938	GM12878	blood:	n/a	n/a
6	BHLHE40	chr1:242976782-242977230	GM12878	blood:	n/a	n/a
7	BRCA1	chr1:242997383-242997489	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr1:242954012-242954043	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr1:242955789-242955931	A549	lung:	n/a	n/a
10	CEBPB	chr1:242998320-242998357	HepG2	liver:	n/a	chr1:242998327-242998338
11	CEBPB	chr1:242998985-242999533	A549	lung:	n/a	n/a
12	CHD1	chr1:242976654-242977278	GM12878	blood:	n/a	n/a
13	CHD2	chr1:242976690-242977268	GM12878	blood:	n/a	n/a
14	CHD2	chr1:243005456-243005619	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr1:242991732-242991777	HepG2	liver:	n/a	n/a
16	CTCF	chr1:242991609-242991849	Gliobla	brain:	n/a	chr1:242991719-242991740
17	CTCF	chr1:243005480-243005630	NB4	blood:	n/a	n/a
18	CTCF	chr1:243005486-243005654	HepG2	liver:	n/a	n/a
19	CTCF	chr1:242956800-242956950	BE2_C	brain:	n/a	n/a
20	CTCF	chr1:242956821-242956934	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:242956740-242956890	K562	blood:	n/a	n/a
22	CTCF	chr1:242991590-242991854	A549	lung:	n/a	chr1:242991719-242991740
23	CTCF	chr1:242991647-242991850	Medullo	brain:	n/a	chr1:242991719-242991740
24	CTCF	chr1:242956774-242956984	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr1:242991680-242991830	GM12867	blood:	n/a	chr1:242991719-242991740
26	CTCF	chr1:243004440-243004467	K562	blood:	n/a	n/a
27	CTCF	chr1:242991603-242991862	SK-N-SH_RA	brain:	n/a	chr1:242991719-242991740
28	CTCF	chr1:242991664-242991809	GM19240	blood:	n/a	chr1:242991719-242991740
29	CTCF	chr1:242980516-242980539	LNCaP	prostate:	n/a	n/a
30	CTCF	chr1:243005527-243005650	GM12878	blood:	n/a	n/a
31	CTCF	chr1:242991611-242991888	A549	lung:	n/a	chr1:242991719-242991740
32	CTCF	chr1:242991580-242991730	GM12871	blood:	n/a	n/a
33	CTCF	chr1:242991671-242991808	Hela-S3	cervix:	n/a	chr1:242991719-242991740
34	CTCF	chr1:243005534-243005642	HepG2	liver:	n/a	n/a
35	CTCF	chr1:243041160-243041310	GM12871	blood:	n/a	n/a
36	CTCF	chr1:242956780-242956930	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:242991657-242991791	GM10266	blood:	n/a	chr1:242991719-242991740
38	CTCF	chr1:243005419-243005703	K562	blood:	n/a	n/a
39	CTCF	chr1:242956780-242956930	HMEC	breast:	n/a	n/a
40	CTCF	chr1:243005500-243005650	A549	lung:	n/a	n/a
41	CTCF	chr1:242956755-242956997	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr1:242991680-242991830	GM06990	blood:	n/a	chr1:242991719-242991740
43	CTCF	chr1:242991520-242991670	GM12873	blood:	n/a	n/a
44	CTCF	chr1:243018120-243018158	GM10248	blood:	n/a	n/a
45	CTCF	chr1:243005306-243005847	A549	lung:	n/a	n/a
46	CTCF	chr1:242991653-242991794	LNCaP	prostate:	n/a	chr1:242991719-242991740
47	CTCF	chr1:242991636-242991778	SK-N-SH_RA	brain:	n/a	chr1:242991719-242991740
48	CTCF	chr1:242991500-242992044	K562	blood:	n/a	chr1:242991719-242991740
49	CTCF	chr1:242956783-242956967	K562	blood:	n/a	n/a
50	CTCF	chr1:242991589-242991953	K562	blood:	n/a	chr1:242991719-242991740

No.	Distal block	Cell Line	Cell type
1	chr1:242989477..242991101-chr1:242991941..242994002,2	K562	blood:
2	chr1:243028922..243031643-chr1:243036505..243039074,2	K562	blood:
3	chr1:242989477..242991101-chr1:242991941..242994002,2	K562	blood:
4	chr1:242617838..242618342-chr1:242955947..242956813,2	MCF-7	breast:
5	chr1:243028092..243030417-chr1:243031884..243034309,2	K562	blood:
6	chr1:243019974..243021671-chr1:243028235..243030687,2	K562	blood:
7	chr1:243019974..243021671-chr1:243028235..243030687,2	K562	blood:
8	chr1:242998388..243001295-chr1:243002456..243004745,2	K562	blood:
9	chr1:242991254..242992220-chr1:243099841..243100636,3	MCF-7	breast:
10	chr1:243003845..243005366-chr1:243007691..243009298,2	K562	blood:
11	chr1:243028922..243031643-chr1:243036505..243039074,2	K562	blood:
12	chr1:243028092..243030417-chr1:243031884..243034309,2	K562	blood:
13	chr1:243003845..243005366-chr1:243007691..243009298,2	K562	blood:
14	chr1:242998388..243001295-chr1:243002456..243004745,2	K562	blood:

Variant related genes	Relation type
ENSG00000270818	TF binding region

Extended variants
information (count: 1613 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1613 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529859863	chr1:242953998-242953999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs36092156	chr1:242954001-242954002	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566733572	chr1:242954004-242954005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186040761	chr1:242954052-242954053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191159424	chr1:242954088-242954089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567142821	chr1:242954106-242954107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183289896	chr1:242954117-242954118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77143707	chr1:242954132-242954133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114736284	chr1:242954141-242954142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552443300	chr1:242954143-242954144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140738139	chr1:242954144-242954145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538791297	chr1:242954174-242954175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185377872	chr1:242954182-242954183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557023582	chr1:242954204-242954205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569360201	chr1:242954226-242954227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554921628	chr1:242954231-242954232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2809896	chr1:242954235-242954236	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534285455	chr1:242954302-242954303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554005168	chr1:242954303-242954304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114018749	chr1:242954350-242954351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566847175	chr1:242954385-242954386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374732941	chr1:242954388-242954389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113423743	chr1:242954432-242954433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145752999	chr1:242954440-242954441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138621574	chr1:242954517-242954518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142764409	chr1:242954534-242954535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544194013	chr1:242954540-242954541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190623618	chr1:242954596-242954597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34238919	chr1:242954613-242954614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2809897	chr1:242954631-242954632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs546671738	chr1:242954653-242954654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559857453	chr1:242954663-242954664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183291668	chr1:242954678-242954679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188166876	chr1:242954697-242954698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192880409	chr1:242954700-242954701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146945495	chr1:242954787-242954788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138041573	chr1:242954788-242954789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548637249	chr1:242954805-242954806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568423233	chr1:242954815-242954816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533987114	chr1:242954817-242954818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375803378	chr1:242954829-242954830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370181407	chr1:242954843-242954844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149508523	chr1:242954897-242954898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113173954	chr1:242954907-242954908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539959454	chr1:242954921-242954922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558748800	chr1:242954975-242954976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75248892	chr1:242954978-242954979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544472404	chr1:242955000-242955001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554614668	chr1:242955006-242955007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183551303	chr1:242955007-242955008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242945800-242955000	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:242953400-242954000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:242953600-242954000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:242953600-242954400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:242953800-242955800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:242954800-242955200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:242955200-242955400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
8	chr1:242955800-242956000	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr1:242963600-242964000	Enhancers	GM12878-XiMat	blood
10	chr1:242974000-242975000	Enhancers	HMEC	breast
11	chr1:242974600-242975200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:242976400-242976600	Enhancers	GM12878-XiMat	blood
13	chr1:242976400-242977000	Enhancers	Primary B cells from cord blood	blood
14	chr1:242976400-242977200	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:242976600-242977200	Flanking Active TSS	GM12878-XiMat	blood
16	chr1:242977200-242977400	Enhancers	GM12878-XiMat	blood
17	chr1:242987200-242988800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:242987200-242991000	Enhancers	HMEC	breast
19	chr1:242987400-242988600	Enhancers	A549	lung
20	chr1:242987400-242988800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:242987600-242987800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:242987600-242987800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:242987600-242988000	Enhancers	HSMMtube	muscle
24	chr1:242987600-242988200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:242987600-242988600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:242987600-242989000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:242987600-242991800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:242987600-242993200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:242987800-242988600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:242987800-242988600	Enhancers	Hela-S3	cervix
31	chr1:242988000-242990000	Weak transcription	HSMMtube	muscle
32	chr1:242988200-242992000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:242988600-242989600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:242988600-242989600	Weak transcription	A549	lung
35	chr1:242988600-242989600	Weak transcription	Hela-S3	cervix
36	chr1:242988600-242991400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:242988800-242989200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:242988800-242990000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:242989000-242989200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:242989000-242989200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:242989000-242989400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:242989200-242991800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:242989400-242990600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:242989600-242990200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr1:242989600-242990400	Enhancers	Hela-S3	cervix
46	chr1:242989600-242991600	Enhancers	A549	lung
47	chr1:242989800-242991600	Enhancers	NH-A	brain
48	chr1:242989800-242991800	Enhancers	Fetal Brain Male	brain
49	chr1:242990000-242990200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:242990000-242990200	Enhancers	HSMMtube	muscle

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