Variant report

Variant	nsv547859
Chromosome Location	chr1:152466882-152482587
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	chr1:152474023-152474647	A549	lung:	n/a	n/a
2	ATF3	chr1:152474035-152474592	A549	lung:	n/a	n/a
3	BCL3	chr1:152474009-152474620	A549	lung:	n/a	n/a
4	BCL3	chr1:152474020-152474727	A549	lung:	n/a	n/a
5	CEBPB	chr1:152474042-152474652	A549	lung:	n/a	n/a
6	CEBPB	chr1:152479431-152479933	A549	lung:	n/a	n/a
7	CEBPB	chr1:152474105-152474582	A549	lung:	n/a	n/a
8	CEBPB	chr1:152474022-152474518	A549	lung:	n/a	n/a
9	CEBPB	chr1:152475323-152475483	HepG2	liver:	n/a	n/a
10	CEBPB	chr1:152475046-152475605	A549	lung:	n/a	n/a
11	CEBPB	chr1:152475333-152475515	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr1:152479524-152479857	A549	lung:	n/a	n/a
13	CHD2	chr1:152482065-152482147	GM12878	blood:	n/a	n/a
14	CREB1	chr1:152474140-152474501	A549	lung:	n/a	n/a
15	CREB1	chr1:152474169-152474534	A549	lung:	n/a	n/a
16	CTCF	chr1:152467680-152467830	GM12865	blood:	n/a	chr1:152467741-152467757
17	CTCF	chr1:152469920-152470070	HRPEpiC	eye:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
18	CTCF	chr1:152469840-152469990	AoAF	blood vessel:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
19	CTCF	chr1:152467649-152467864	HUVEC	blood vessel:	n/a	chr1:152467741-152467757
20	CTCF	chr1:152469910-152470022	GM12891	blood:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
21	CTCF	chr1:152467680-152467830	GM12866	blood:	n/a	chr1:152467741-152467757
22	CTCF	chr1:152469860-152470010	GM12871	blood:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
23	CTCF	chr1:152467621-152467877	GM12892	blood:	n/a	chr1:152467741-152467757
24	CTCF	chr1:152467620-152467770	GM12866	blood:	n/a	chr1:152467741-152467757
25	CTCF	chr1:152467660-152467810	AG10803	skin:	n/a	chr1:152467741-152467757
26	CTCF	chr1:152467640-152467790	SAEC	small airway:	n/a	chr1:152467741-152467757
27	CTCF	chr1:152467624-152467836	Medullo	brain:	n/a	chr1:152467741-152467757
28	CTCF	chr1:152467720-152467870	GM12878	blood:	n/a	chr1:152467741-152467757
29	CTCF	chr1:152469900-152470050	SAEC	small airway:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
30	CTCF	chr1:152469880-152470030	SAEC	small airway:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
31	CTCF	chr1:152467680-152467830	HRE	kidney:	n/a	chr1:152467741-152467757
32	CTCF	chr1:152467620-152467770	GM12870	blood:	n/a	chr1:152467741-152467757
33	CTCF	chr1:152467597-152467896	Gliobla	brain:	n/a	chr1:152467741-152467757
34	CTCF	chr1:152469900-152470050	NHEK	skin:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
35	CTCF	chr1:152467600-152467750	HAc	cerebellar:	n/a	n/a
36	CTCF	chr1:152469820-152469970	HCT-116	colon:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
37	CTCF	chr1:152469880-152470030	HUVEC	blood vessel:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
38	CTCF	chr1:152467700-152467850	HRPEpiC	eye:	n/a	chr1:152467741-152467757
39	CTCF	chr1:152467631-152467854	MCF-7	breast:	n/a	chr1:152467741-152467757
40	CTCF	chr1:152469880-152470030	GM12865	blood:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
41	CTCF	chr1:152467641-152467914	ECC-1	luminal epithelium:	n/a	chr1:152467741-152467757
42	CTCF	chr1:152467660-152467810	BE2_C	brain:	n/a	chr1:152467741-152467757
43	CTCF	chr1:152467620-152467770	GM12868	blood:	n/a	chr1:152467741-152467757
44	CTCF	chr1:152467680-152467830	AoAF	blood vessel:	n/a	chr1:152467741-152467757
45	CTCF	chr1:152467622-152467872	K562	blood:	n/a	chr1:152467741-152467757
46	CTCF	chr1:152469880-152470030	GM06990	blood:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
47	CTCF	chr1:152467680-152467830	GM12869	blood:	n/a	chr1:152467741-152467757
48	CTCF	chr1:152469880-152470030	GM12867	blood:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
49	CTCF	chr1:152469920-152470070	K562	blood:	n/a	chr1:152469946-152469955 chr1:152469944-152469960 chr1:152469948-152469958
50	CTCF	chr1:152467660-152467810	HPAF	blood vessel:	n/a	chr1:152467741-152467757

No.	Distal block	Cell Line	Cell type
1	chr1:152467289..152467864-chr1:153164793..153165453,2	MCF-7	breast:
2	chr1:152475128..152477150-chr1:152479048..152480719,2	MCF-7	breast:
3	chr1:152469581..152470426-chr1:152898262..152898945,2	MCF-7	breast:
4	chr1:152469492..152471247-chr1:152505473..152506875,7	K562	blood:
5	chr1:152469001..152470435-chr1:152505453..152506443,13	MCF-7	breast:
6	chr1:152469495..152470816-chr1:152505489..152506516,11	MCF-7	breast:
7	chr1:152475128..152477150-chr1:152479048..152480719,2	MCF-7	breast:
8	chr1:152467226..152468092-chr1:152505547..152506816,7	MCF-7	breast:
9	chr1:152478290..152479934-chr1:152485097..152487214,2	MCF-7	breast:
10	chr1:152469656..152470449-chr1:152707864..152708774,3	MCF-7	breast:
11	chr1:152467377..152468575-chr1:152505519..152506463,7	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCE5A-4	chr1:152480695-152481126	expReg_chr1_16977_+

Variant related genes	Relation type
CRCT1	TF binding region
LCE5A	TF binding region
ENSG00000169509	chromatin interactions

Extended variants
information (count: 477 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559833698	chr1:152470057-152470058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528485349	chr1:152470069-152470070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183180796	chr1:152470114-152470115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111957409	chr1:152470131-152470132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112816994	chr1:152470201-152470202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6663464	chr1:152470227-152470228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570587700	chr1:152470256-152470257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189218882	chr1:152470278-152470279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546867059	chr1:152470282-152470283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566169621	chr1:152470330-152470331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192893565	chr1:152470352-152470353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555069757	chr1:152470362-152470363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568632488	chr1:152470433-152470434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79065181	chr1:152470451-152470452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557280399	chr1:152470462-152470463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577366474	chr1:152470487-152470488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112618740	chr1:152470590-152470591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553688821	chr1:152470602-152470603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189412143	chr1:152470611-152470612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542268350	chr1:152470671-152470672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545908770	chr1:152470709-152470710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77841336	chr1:152470719-152470720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564461135	chr1:152470734-152470735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138299325	chr1:152470744-152470745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530920847	chr1:152470762-152470763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544650132	chr1:152470804-152470805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149186499	chr1:152470835-152470836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533138713	chr1:152470842-152470843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376182277	chr1:152471038-152471039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546610121	chr1:152471091-152471092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116658597	chr1:152471151-152471152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529122232	chr1:152471152-152471153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147228262	chr1:152471204-152471205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112028981	chr1:152471206-152471207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148329145	chr1:152471343-152471344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537591313	chr1:152471352-152471353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376127637	chr1:152471417-152471418	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141453844	chr1:152471457-152471458	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570992945	chr1:152471462-152471463	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540003186	chr1:152471465-152471466	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553577733	chr1:152471550-152471551	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573596481	chr1:152471581-152471582	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397946731	chr1:152471597-152471598	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199866408	chr1:152471622-152471623	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147458526	chr1:152471646-152471647	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191839005	chr1:152471697-152471698	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1923508	chr1:152471720-152471721	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74357890	chr1:152471736-152471737	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544416458	chr1:152471746-152471747	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564587064	chr1:152471768-152471769	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	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
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	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
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152470000-152473800	Enhancers	A549	lung
2	chr1:152470800-152471000	Enhancers	Esophagus	oesophagus
3	chr1:152471000-152474600	Weak transcription	Esophagus	oesophagus
4	chr1:152471400-152478800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:152473200-152474800	Enhancers	Fetal Intestine Large	intestine
6	chr1:152473200-152480600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:152473600-152476200	Enhancers	Placenta	Placenta
8	chr1:152473600-152480200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:152473800-152475000	Enhancers	NHEK	skin
10	chr1:152473800-152475800	Flanking Active TSS	A549	lung
11	chr1:152473800-152478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:152473800-152480600	Enhancers	HMEC	breast
13	chr1:152474000-152475400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:152474200-152474600	Enhancers	HepG2	liver
15	chr1:152474200-152475000	Enhancers	Osteobl	bone
16	chr1:152474600-152475200	Enhancers	Esophagus	oesophagus
17	chr1:152474600-152475200	Enhancers	NHDF-Ad	bronchial
18	chr1:152474800-152475800	Weak transcription	Fetal Intestine Large	intestine
19	chr1:152475000-152475400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:152475000-152475400	Flanking Active TSS	NHEK	skin
21	chr1:152475200-152477200	Weak transcription	Esophagus	oesophagus
22	chr1:152475400-152480600	Enhancers	NHEK	skin
23	chr1:152475800-152476400	Enhancers	A549	lung
24	chr1:152475800-152479600	Enhancers	Fetal Intestine Large	intestine
25	chr1:152476200-152477600	Weak transcription	Placenta	Placenta
26	chr1:152476400-152482400	Weak transcription	A549	lung
27	chr1:152477000-152477200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:152477200-152478000	Enhancers	Esophagus	oesophagus
29	chr1:152477200-152478400	Enhancers	Fetal Intestine Small	intestine
30	chr1:152477600-152477800	Enhancers	Placenta	Placenta
31	chr1:152478000-152479400	Weak transcription	Esophagus	oesophagus
32	chr1:152478400-152478800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:152478400-152479000	Weak transcription	Fetal Intestine Small	intestine
34	chr1:152478800-152480400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:152479000-152479200	Enhancers	Fetal Intestine Small	intestine
36	chr1:152479200-152479400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr1:152479400-152479600	Enhancers	Esophagus	oesophagus
38	chr1:152479800-152480000	Enhancers	Liver	Liver
39	chr1:152480600-152486600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:152482000-152484600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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