Variant report

Variant	nsv1010576
Chromosome Location	chr1:152791716-152827652
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	BCL3	chr1:152826352-152826584	GM12878	blood:	n/a	n/a
2	BRCA1	chr1:152821089-152821150	GM12878	blood:	n/a	n/a
3	CEBPB	chr1:152815048-152815364	HepG2	liver:	n/a	chr1:152815219-152815236 chr1:152815220-152815231 chr1:152815221-152815232
4	CEBPB	chr1:152811752-152811905	A549	lung:	n/a	n/a
5	CEBPB	chr1:152815166-152815348	K562	blood:	n/a	chr1:152815219-152815236 chr1:152815220-152815231 chr1:152815221-152815232
6	CEBPB	chr1:152792082-152792318	K562	blood:	n/a	n/a
7	CTCF	chr1:152801392-152801438	K562	blood:	n/a	n/a
8	CTCF	chr1:152795920-152796070	GM12866	blood:	n/a	n/a
9	CTCF	chr1:152795880-152796030	GM12864	blood:	n/a	n/a
10	CTCF	chr1:152795900-152796050	GM12868	blood:	n/a	n/a
11	CTCF	chr1:152795860-152796010	GM12872	blood:	n/a	n/a
12	CTCF	chr1:152795840-152795990	GM12870	blood:	n/a	n/a
13	CTCF	chr1:152795940-152796090	HPF	lung:	n/a	n/a
14	CTCF	chr1:152802300-152802450	HepG2	liver:	n/a	n/a
15	CTCF	chr1:152801384-152801450	MCF-7	breast:	n/a	chr1:152801418-152801439
16	CTCF	chr1:152795880-152796030	GM12872	blood:	n/a	n/a
17	CTCF	chr1:152795900-152796050	GM12864	blood:	n/a	n/a
18	CTCF	chr1:152801340-152801490	WERI-Rb-1	eye:	n/a	chr1:152801418-152801439
19	CTCF	chr1:152801360-152801510	MCF-7	breast:	n/a	chr1:152801418-152801439
20	CTCF	chr1:152801393-152801431	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr1:152815340-152815490	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr1:152795880-152796030	HMF	breast:	n/a	n/a
23	CTCF	chr1:152795940-152796090	GM12864	blood:	n/a	n/a
24	CTCF	chr1:152799390-152799474	Fibrobl	skin:	n/a	n/a
25	CTCF	chr1:152795920-152796070	GM12867	blood:	n/a	n/a
26	CTCF	chr1:152795880-152796030	HPF	lung:	n/a	n/a
27	CTCF	chr1:152795880-152796030	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr1:152795877-152796095	Hela-S3	cervix:	n/a	n/a
29	EBF1	chr1:152819508-152819806	GM12878	blood:	n/a	chr1:152819608-152819618 chr1:152819607-152819620 chr1:152819607-152819618 chr1:152819609-152819618 chr1:152819609-152819618
30	FOS	chr1:152823863-152824166	MCF10A-Er-Src	breast:	n/a	chr1:152824022-152824032
31	FOS	chr1:152817421-152817717	MCF10A-Er-Src	breast:	n/a	chr1:152817566-152817575
32	FOS	chr1:152823861-152824165	MCF10A-Er-Src	breast:	n/a	chr1:152824022-152824032
33	FOS	chr1:152809508-152809589	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr1:152823878-152824170	MCF10A-Er-Src	breast:	n/a	chr1:152824022-152824032
35	FOS	chr1:152823940-152824140	MCF10A-Er-Src	breast:	n/a	chr1:152824022-152824032
36	FOS	chr1:152809370-152809570	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr1:152809379-152809731	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr1:152817427-152817707	MCF10A-Er-Src	breast:	n/a	chr1:152817566-152817575
39	FOS	chr1:152817508-152817715	MCF10A-Er-Src	breast:	n/a	chr1:152817566-152817575
40	FOXA1	chr1:152805138-152805347	HepG2	liver:	n/a	n/a
41	FOXA2	chr1:152802950-152803446	A549	lung:	n/a	n/a
42	GATA2	chr1:152823476-152823817	HUVEC	blood vessel:	n/a	chr1:152823640-152823647 chr1:152823635-152823649 chr1:152823605-152823612 chr1:152823633-152823654 chr1:152823639-152823649 chr1:152823640-152823649 chr1:152823605-152823614 chr1:152823545-152823558 chr1:152823604-152823614
43	GATA2	chr1:152823465-152823832	SH-SY5Y	brain:	n/a	chr1:152823640-152823647 chr1:152823635-152823649 chr1:152823605-152823612 chr1:152823633-152823654 chr1:152823639-152823649 chr1:152823640-152823649 chr1:152823605-152823614 chr1:152823545-152823558 chr1:152823604-152823614
44	GATA3	chr1:152796839-152796917	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr1:152823527-152823830	SH-SY5Y	brain:	n/a	chr1:152823640-152823647 chr1:152823605-152823612 chr1:152823633-152823654 chr1:152823639-152823649 chr1:152823640-152823649 chr1:152823605-152823614 chr1:152823545-152823558 chr1:152823604-152823614
46	GATA3	chr1:152813002-152813216	SH-SY5Y	brain:	n/a	n/a
47	JUN	chr1:152817418-152817603	HepG2	liver:	n/a	chr1:152817566-152817575
48	JUND	chr1:152817437-152817711	HepG2	liver:	n/a	chr1:152817566-152817575
49	MAFK	chr1:152793394-152793557	HepG2	liver:	n/a	n/a
50	MAFK	chr1:152814753-152814793	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152815843-152815893	U87	brain:	n/a
2	chr1:152799138-152799188	GM12878	blood:	n/a
3	chr1:152815843-152815893	HUVEC	blood vessel:	n/a
4	chr1:152799138-152799188	Caco-2	colon:	n/a
5	chr1:152815843-152815893	NH-A	brain:	n/a
6	chr1:152815459-152815509	PrEC	prostate:	n/a
7	chr1:152800168-152800218	HRPEpiC	eye:	n/a
8	chr1:152799942-152799992	PrEC	prostate:	n/a
9	chr1:152800168-152800218	SKMC	muscle:	n/a
10	chr1:152799138-152799188	PANC-1	pancreas:	n/a
11	chr1:152800168-152800218	IMR90	lung:	fetal
12	chr1:152815843-152815893	HNPCEpiC	eye:	n/a
13	chr1:152799942-152799992	H1-hESC	embryonic stem cell:	embryo
14	chr1:152815843-152815893	CMK	blood:	n/a
15	chr1:152799942-152799992	HepG2	liver:	n/a
16	chr1:152798912-152798962	CMK	blood:	n/a
17	chr1:152814831-152814881	HIPEpiC	eye:	n/a
18	chr1:152799138-152799188	ovcar-3	ovarian:	n/a
19	chr1:152800168-152800218	HNPCEpiC	eye:	n/a
20	chr1:152813850-152813900	HCPEpiC	choroid plexus:	n/a
21	chr1:152799138-152799188	PrEC	prostate:	n/a
22	chr1:152813850-152813900	IMR90	lung:	fetal
23	chr1:152800168-152800218	NB4	blood:	n/a
24	chr1:152799138-152799188	AG09319	gingival:	n/a
25	chr1:152798912-152798962	Caco-2	colon:	n/a
26	chr1:152814273-152814323	SK-N-MC	brain:	n/a
27	chr1:152798912-152798962	MCF-7	breast:	n/a
28	chr1:152815158-152815208	HMEC	breast:	n/a
29	chr1:152815158-152815208	MCF-7	breast:	n/a
30	chr1:152815843-152815893	ECC-1	luminal epithelium:	n/a
31	chr1:152815459-152815509	HRCEpiC	kidney:	n/a
32	chr1:152815158-152815208	SK-N-SH_RA	brain:	n/a
33	chr1:152816168-152816218	GM19239	blood:	n/a
34	chr1:152814273-152814323	HRE	kidney:	n/a
35	chr1:152813850-152813900	ovcar-3	ovarian:	n/a
36	chr1:152814273-152814323	U87	brain:	n/a
37	chr1:152798912-152798962	PFSK-1	brain:	n/a
38	chr1:152815459-152815509	HEK293	kidney:	embryo
39	chr1:152800168-152800218	PrEC	prostate:	n/a
40	chr1:152815068-152815118	HNPCEpiC	eye:	n/a
41	chr1:152799138-152799188	H1-hESC	embryonic stem cell:	embryo
42	chr1:152798912-152798962	Hela-S3	cervix:	n/a
43	chr1:152815158-152815208	Hela-S3	cervix:	n/a
44	chr1:152799942-152799992	AG04450	lung:	fetal
45	chr1:152816168-152816218	ovcar-3	ovarian:	n/a
46	chr1:152798912-152798962	ovcar-3	ovarian:	n/a
47	chr1:152800168-152800218	SK-N-SH	brain:	n/a
48	chr1:152814273-152814323	SAEC	small airway:	n/a
49	chr1:152815843-152815893	HL-60	blood:	n/a
50	chr1:152813850-152813900	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:152815759..152818741-chr1:152820078..152821865,2	K562	blood:
2	chr1:152815759..152818741-chr1:152820078..152821865,2	K562	blood:
3	chr1:152826667..152828678-chr1:152831968..152833911,2	K562	blood:

Variant related genes	Relation type
LCE6A	TF binding region
LCE1A	TF binding region
LCE6A	CpG island
LCE1A	CpG island

Extended variants
information (count: 591 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577343175	chr1:152791743-152791744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546096823	chr1:152791791-152791792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34397603	chr1:152791826-152791827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112018589	chr1:152791838-152791839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574381769	chr1:152791858-152791859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375269926	chr1:152791901-152791902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572984973	chr1:152791916-152791917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73021110	chr1:152791931-152791932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559864872	chr1:152791932-152791933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193242052	chr1:152791940-152791941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142533593	chr1:152791979-152791980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185682409	chr1:152791984-152791985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541103881	chr1:152792005-152792006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563725717	chr1:152792008-152792009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368122319	chr1:152792010-152792011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532810227	chr1:152792088-152792089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552441616	chr1:152792132-152792133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150826137	chr1:152792143-152792144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566250711	chr1:152792162-152792163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190143692	chr1:152792184-152792185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150933825	chr1:152792225-152792226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548519132	chr1:152792227-152792228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114993075	chr1:152792234-152792235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537526044	chr1:152792260-152792261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192034746	chr1:152792368-152792369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141915864	chr1:152792370-152792371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539883298	chr1:152792394-152792395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115199966	chr1:152792430-152792431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144948860	chr1:152792462-152792463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541982555	chr1:152792552-152792553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565526164	chr1:152792568-152792569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114461728	chr1:152792581-152792582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35331362	chr1:152792643-152792644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575432432	chr1:152792670-152792671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543884161	chr1:152792690-152792691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147948061	chr1:152792707-152792708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141786625	chr1:152792713-152792714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539843641	chr1:152792714-152792715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559965452	chr1:152792723-152792724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551129933	chr1:152792730-152792731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200635608	chr1:152792741-152792742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560073994	chr1:152792771-152792772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528798345	chr1:152792794-152792795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548897758	chr1:152792796-152792797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553113749	chr1:152793000-152793001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566727697	chr1:152793019-152793020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535373657	chr1:152793021-152793022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113142608	chr1:152793051-152793052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149162394	chr1:152793075-152793076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544008223	chr1:152793093-152793094	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
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152788600-152792800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:152793000-152793400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:152793200-152793600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:152793200-152793600	Enhancers	GM12878-XiMat	blood
5	chr1:152797200-152797800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:152797400-152797800	Enhancers	NHEK	skin
7	chr1:152797600-152797800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:152808800-152809800	Enhancers	NHDF-Ad	bronchial
9	chr1:152809000-152809200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:152809000-152809400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:152809000-152809800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:152809200-152809600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:152809600-152810200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:152819600-152820000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:152819600-152820000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:152819600-152820000	Enhancers	NHEK	skin
17	chr1:152820000-152828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:152825200-152825400	Weak transcription	HSMMtube	muscle
19	chr1:152825400-152825600	Enhancers	HSMMtube	muscle
20	chr1:152825600-152826600	Weak transcription	HSMMtube	muscle
21	chr1:152826600-152829000	Enhancers	HSMMtube	muscle
22	chr1:152827400-152831400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:152827600-152831400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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