Variant report

Variant	esv3334814
Chromosome Location	chr1:153044548-153067651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:153045341-153045614	K562	blood:	n/a	n/a
2	ATF1	chr1:153045393-153045647	K562	blood:	n/a	n/a
3	CCNT2	chr1:153045352-153045547	K562	blood:	n/a	n/a
4	CEBPB	chr1:153045498-153045761	K562	blood:	n/a	n/a
5	CEBPD	chr1:153045266-153045639	K562	blood:	n/a	n/a
6	CTCF	chr1:153063911-153064021	GM12878	blood:	n/a	n/a
7	CTCF	chr1:153063900-153064050	HMEC	breast:	n/a	n/a
8	CTCF	chr1:153063820-153063970	HMEC	breast:	n/a	n/a
9	CTCF	chr1:153063864-153064071	MCF-7	breast:	n/a	n/a
10	CTCF	chr1:153066024-153066066	GM20000	blood:	n/a	n/a
11	CTCF	chr1:153064060-153064210	HCT-116	colon:	n/a	n/a
12	CTCF	chr1:153063711-153064204	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:153063909-153064013	NHEK	skin:	n/a	n/a
14	CTCF	chr1:153063878-153064040	MCF-7	breast:	n/a	n/a
15	CTCF	chr1:153063890-153064040	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr1:153063880-153064030	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr1:153055710-153055745	GM13977	blood:	n/a	n/a
18	CTCF	chr1:153063880-153064030	GM06990	blood:	n/a	n/a
19	CTCF	chr1:153066360-153066458	GM20000	blood:	n/a	n/a
20	CTCF	chr1:153063920-153064070	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:153063860-153064010	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr1:153063926-153064004	K562	blood:	n/a	n/a
23	CTCF	chr1:153063899-153064048	K562	blood:	n/a	n/a
24	CUX1	chr1:153060227-153060448	K562	blood:	n/a	n/a
25	E2F4	chr1:153058721-153058766	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr1:153066002-153066258	GM12878	blood:	n/a	n/a
27	EGR1	chr1:153059567-153059711	GM12878	blood:	n/a	n/a
28	EP300	chr1:153060278-153060498	K562	blood:	n/a	n/a
29	EP300	chr1:153045337-153045615	K562	blood:	n/a	n/a
30	FOS	chr1:153054315-153054649	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr1:153050148-153050473	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr1:153054228-153054679	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr1:153050138-153050473	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr1:153045530-153045570	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr1:153054344-153054673	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr1:153050115-153050471	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr1:153045436-153045599	MCF10A-Er-Src	breast:	n/a	chr1:153045574-153045583 chr1:153045488-153045496 chr1:153045509-153045517
38	FOS	chr1:153050017-153050475	MCF10A-Er-Src	breast:	n/a	n/a
39	GATA1	chr1:153065980-153066554	PBDE	blood:	n/a	n/a
40	GATA1	chr1:153060130-153060616	PBDE	blood:	n/a	n/a
41	GATA1	chr1:153045339-153046558	PBDE	blood:	n/a	chr1:153045389-153045399 chr1:153046361-153046371 chr1:153045830-153045841 chr1:153045390-153045397 chr1:153045390-153045399
42	GATA2	chr1:153045208-153046108	K562	blood:	n/a	chr1:153045389-153045399 chr1:153045830-153045841 chr1:153045390-153045397 chr1:153045390-153045399
43	GATA2	chr1:153045259-153045720	K562	blood:	n/a	chr1:153045389-153045399 chr1:153045390-153045397 chr1:153045390-153045399
44	GATA3	chr1:153060431-153060787	MCF-7	breast:	n/a	n/a
45	IRF1	chr1:153045370-153045981	K562	blood:	n/a	n/a
46	IRF1	chr1:153048344-153048364	K562	blood:	n/a	n/a
47	IRF1	chr1:153059196-153059214	K562	blood:	n/a	n/a
48	IRF1	chr1:153045297-153045649	K562	blood:	n/a	n/a
49	JUN	chr1:153045361-153045677	K562	blood:	n/a	chr1:153045574-153045583 chr1:153045488-153045496 chr1:153045509-153045517
50	JUND	chr1:153045351-153045999	K562	blood:	n/a	chr1:153045574-153045583 chr1:153045488-153045496 chr1:153045509-153045517

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153045274-153045324	HCM	heart:	n/a
2	chr1:153065613-153065663	HAEpiC	amniotic membrane:	n/a
3	chr1:153065613-153065663	GM12878	blood:	n/a
4	chr1:153045274-153045324	AG04449	skin:	fetal
5	chr1:153045274-153045324	HUVEC	blood vessel:	n/a
6	chr1:153045274-153045324	RPTEC	kidney:	n/a
7	chr1:153045274-153045324	HepG2	liver:	n/a
8	chr1:153065613-153065663	Jurkat	blood:	n/a
9	chr1:153065613-153065663	BJ	skin:	n/a
10	chr1:153065613-153065663	HepG2	liver:	n/a
11	chr1:153045274-153045324	HMEC	breast:	n/a
12	chr1:153045274-153045324	BE2_C	brain:	n/a
13	chr1:153065613-153065663	NB4	blood:	n/a
14	chr1:153045274-153045324	AG09319	gingival:	n/a
15	chr1:153065613-153065663	AG09319	gingival:	n/a
16	chr1:153065613-153065663	AG10803	skin:	n/a
17	chr1:153045274-153045324	ProgFib	skin:	n/a
18	chr1:153065613-153065663	CMK	blood:	n/a
19	chr1:153045274-153045324	AoSMC	blood vessel:	n/a
20	chr1:153065613-153065663	HRE	kidney:	n/a
21	chr1:153045274-153045324	NH-A	brain:	n/a
22	chr1:153045274-153045324	HRPEpiC	eye:	n/a
23	chr1:153065613-153065663	MCF-7	breast:	n/a
24	chr1:153065613-153065663	GM12891	blood:	n/a
25	chr1:153045274-153045324	Caco-2	colon:	n/a
26	chr1:153045274-153045324	BJ	skin:	n/a
27	chr1:153065613-153065663	U87	brain:	n/a
28	chr1:153065613-153065663	HCT-116	colon:	n/a
29	chr1:153065613-153065663	GM12892	blood:	n/a
30	chr1:153045274-153045324	PrEC	prostate:	n/a
31	chr1:153045274-153045324	Hela-S3	cervix:	n/a
32	chr1:153045274-153045324	SK-N-SH	brain:	n/a
33	chr1:153045274-153045324	GM12891	blood:	n/a
34	chr1:153045274-153045324	AG09309	skin:	n/a
35	chr1:153045274-153045324	AG10803	skin:	n/a
36	chr1:153065613-153065663	HNPCEpiC	eye:	n/a
37	chr1:153045274-153045324	SAEC	small airway:	n/a
38	chr1:153065613-153065663	RPTEC	kidney:	n/a
39	chr1:153045274-153045324	SK-N-SH_RA	brain:	n/a
40	chr1:153045274-153045324	K562	blood:	n/a
41	chr1:153045274-153045324	PFSK-1	brain:	n/a
42	chr1:153065613-153065663	K562	blood:	n/a
43	chr1:153065613-153065663	H1-hESC	embryonic stem cell:	embryo
44	chr1:153065613-153065663	Caco-2	colon:	n/a
45	chr1:153045274-153045324	HIPEpiC	eye:	n/a
46	chr1:153065613-153065663	PrEC	prostate:	n/a
47	chr1:153045274-153045324	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:153045274-153045324	GM12892	blood:	n/a
49	chr1:153045274-153045324	H1-hESC	embryonic stem cell:	embryo
50	chr1:153045274-153045324	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153040069..153041954-chr1:153044290..153046075,2	K562	blood:

No data

Variant related genes	Relation type
SPRR2B	TF binding region
SPRR2E	TF binding region
SPRR2B	CpG island
SPRR2E	CpG island

Extended variants
information (count: 1049 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:1049 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553094412	chr1:153044579-153044580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371456314	chr1:153044611-153044612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541889369	chr1:153044648-153044649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562088693	chr1:153044654-153044655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189793249	chr1:153044685-153044686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74432511	chr1:153044705-153044706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs440598	chr1:153044733-153044734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs193161585	chr1:153044755-153044756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112796806	chr1:153044773-153044774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566477824	chr1:153044807-153044808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532453200	chr1:153044839-153044840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544491198	chr1:153044890-153044891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568795502	chr1:153044947-153044948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537352401	chr1:153044976-153044977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562689473	chr1:153044986-153044987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6686526	chr1:153044996-153044997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs426147	chr1:153045011-153045012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183943998	chr1:153045060-153045061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539681253	chr1:153045088-153045089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560192275	chr1:153045092-153045093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527339554	chr1:153045095-153045096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6689066	chr1:153045154-153045155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs149599065	chr1:153045168-153045169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12097833	chr1:153045187-153045188	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371547042	chr1:153045188-153045189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112878195	chr1:153045189-153045190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544612108	chr1:153045226-153045227	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs564411932	chr1:153045230-153045231	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs116977584	chr1:153045251-153045252	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs111739532	chr1:153045256-153045257	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs560265536	chr1:153045272-153045273	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs570083982	chr1:153045279-153045280	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs528989305	chr1:153045287-153045288	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs549016376	chr1:153045299-153045300	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs75237818	chr1:153045310-153045311	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs188722745	chr1:153045320-153045321	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs442209	chr1:153045330-153045331	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs141964769	chr1:153045335-153045336	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs180767969	chr1:153045377-153045378	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs539720013	chr1:153045410-153045411	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs1500937	chr1:153045483-153045484	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs567011252	chr1:153045522-153045523	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs207460440	chr1:153045526-153045527	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs185215592	chr1:153045534-153045535	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs189527942	chr1:153045541-153045542	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs146291646	chr1:153045542-153045543	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs575797343	chr1:153045552-153045553	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs538275189	chr1:153045583-153045584	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs11812015	chr1:153045584-153045585	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs79883482	chr1:153045606-153045607	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
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
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153032200-153053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:153044000-153044600	Enhancers	Esophagus	oesophagus
3	chr1:153044000-153045400	Enhancers	K562	blood
4	chr1:153045400-153046400	Flanking Active TSS	K562	blood
5	chr1:153046400-153046800	Enhancers	K562	blood
6	chr1:153046800-153047400	Weak transcription	K562	blood
7	chr1:153047400-153047600	Enhancers	K562	blood
8	chr1:153050200-153050800	Enhancers	NHEK	skin
9	chr1:153050800-153053800	Weak transcription	NHEK	skin
10	chr1:153053400-153053600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:153053800-153055000	Enhancers	NHEK	skin
12	chr1:153054000-153054800	Enhancers	HMEC	breast
13	chr1:153055200-153068400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:153059800-153060600	Enhancers	K562	blood
15	chr1:153060600-153068200	Weak transcription	K562	blood
16	chr1:153067000-153067400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:153067000-153067400	Enhancers	NHEK	skin
18	chr1:153067200-153067400	Enhancers	Hela-S3	cervix
19	chr1:153067400-153067600	Enhancers	Esophagus	oesophagus
20	chr1:153067400-153068400	Weak transcription	Hela-S3	cervix
21	chr1:153067400-153070200	Weak transcription	NHEK	skin
22	chr1:153067400-153072000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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