Variant report

Variant	esv3425721
Chromosome Location	chr1:153057079-153076073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:129)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:129 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr1:153072106-153072249	Hela-S3	cervix:	n/a	n/a
2	CBX3	chr1:153072732-153073222	HCT-116	colon:	n/a	n/a
3	CEBPB	chr1:153072025-153072481	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr1:153072593-153073269	HCT-116	colon:	n/a	n/a
5	CEBPB	chr1:153072685-153073167	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr1:153072214-153073260	HCT-116	colon:	n/a	n/a
7	CEBPB	chr1:153072809-153073124	MCF-7	breast:	n/a	n/a
8	CEBPB	chr1:153070459-153070753	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr1:153072795-153073086	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr1:153075100-153075250	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr1:153064060-153064210	HCT-116	colon:	n/a	n/a
12	CTCF	chr1:153075120-153075270	HEK293	kidney:	n/a	n/a
13	CTCF	chr1:153075060-153075210	K562	blood:	n/a	n/a
14	CTCF	chr1:153063864-153064071	MCF-7	breast:	n/a	n/a
15	CTCF	chr1:153063899-153064048	K562	blood:	n/a	n/a
16	CTCF	chr1:153063909-153064013	NHEK	skin:	n/a	n/a
17	CTCF	chr1:153063860-153064010	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr1:153063900-153064050	HMEC	breast:	n/a	n/a
19	CTCF	chr1:153075177-153075215	MCF-7	breast:	n/a	n/a
20	CTCF	chr1:153063820-153063970	HMEC	breast:	n/a	n/a
21	CTCF	chr1:153063880-153064030	GM06990	blood:	n/a	n/a
22	CTCF	chr1:153063911-153064021	GM12878	blood:	n/a	n/a
23	CTCF	chr1:153075210-153075216	A549	lung:	n/a	n/a
24	CTCF	chr1:153066360-153066458	GM20000	blood:	n/a	n/a
25	CTCF	chr1:153075219-153075286	A549	lung:	n/a	n/a
26	CTCF	chr1:153063878-153064040	MCF-7	breast:	n/a	n/a
27	CTCF	chr1:153063920-153064070	MCF-7	breast:	n/a	n/a
28	CTCF	chr1:153066024-153066066	GM20000	blood:	n/a	n/a
29	CTCF	chr1:153063711-153064204	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:153072114-153072181	LNCaP	prostate:	n/a	n/a
31	CTCF	chr1:153075162-153075244	LNCaP	prostate:	n/a	n/a
32	CTCF	chr1:153063880-153064030	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr1:153063890-153064040	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr1:153075160-153075170	ProgFib	skin:	n/a	n/a
35	CTCF	chr1:153063926-153064004	K562	blood:	n/a	n/a
36	CUX1	chr1:153060227-153060448	K562	blood:	n/a	n/a
37	E2F4	chr1:153072803-153073112	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr1:153058721-153058766	MCF10A-Er-Src	breast:	n/a	n/a
39	EBF1	chr1:153066002-153066258	GM12878	blood:	n/a	n/a
40	EGR1	chr1:153059567-153059711	GM12878	blood:	n/a	n/a
41	EP300	chr1:153071976-153073524	Hela-S3	cervix:	n/a	n/a
42	EP300	chr1:153060278-153060498	K562	blood:	n/a	n/a
43	EP300	chr1:153070217-153070881	Hela-S3	cervix:	n/a	chr1:153070612-153070626
44	FOS	chr1:153072180-153073237	MCF10A-Er-Src	breast:	n/a	chr1:153072839-153072850
45	FOS	chr1:153072164-153073162	HUVEC	blood vessel:	n/a	chr1:153072839-153072850
46	FOS	chr1:153072065-153073279	MCF10A-Er-Src	breast:	n/a	chr1:153072839-153072850
47	FOS	chr1:153072067-153073227	MCF10A-Er-Src	breast:	n/a	chr1:153072839-153072850
48	FOS	chr1:153072269-153073227	MCF10A-Er-Src	breast:	n/a	chr1:153072839-153072850
49	FOSL1	chr1:153072612-153073281	HCT-116	colon:	n/a	n/a
50	FOSL1	chr1:153072022-153073251	HCT-116	colon:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153068231-153068281	NB4	blood:	n/a
2	chr1:153068236-153068286	HCPEpiC	choroid plexus:	n/a
3	chr1:153068236-153068286	GM06990	blood:	n/a
4	chr1:153068231-153068281	H1-hESC	embryonic stem cell:	embryo
5	chr1:153068236-153068286	CMK	blood:	n/a
6	chr1:153065613-153065663	T-47D	breast:	n/a
7	chr1:153068231-153068281	U87	brain:	n/a
8	chr1:153068231-153068281	PrEC	prostate:	n/a
9	chr1:153065613-153065663	CMK	blood:	n/a
10	chr1:153068236-153068286	SAEC	small airway:	n/a
11	chr1:153065613-153065663	PFSK-1	brain:	n/a
12	chr1:153068236-153068286	SK-N-MC	brain:	n/a
13	chr1:153068231-153068281	HNPCEpiC	eye:	n/a
14	chr1:153068231-153068281	HMEC	breast:	n/a
15	chr1:153065613-153065663	RPTEC	kidney:	n/a
16	chr1:153068231-153068281	MCF-7	breast:	n/a
17	chr1:153065613-153065663	A549	lung:	n/a
18	chr1:153065613-153065663	SK-N-SH_RA	brain:	n/a
19	chr1:153068231-153068281	SK-N-MC	brain:	n/a
20	chr1:153068231-153068281	Caco-2	colon:	n/a
21	chr1:153068236-153068286	PANC-1	pancreas:	n/a
22	chr1:153068231-153068281	GM12891	blood:	n/a
23	chr1:153068231-153068281	AG04449	skin:	fetal
24	chr1:153065613-153065663	Jurkat	blood:	n/a
25	chr1:153065613-153065663	HCM	heart:	n/a
26	chr1:153068236-153068286	PrEC	prostate:	n/a
27	chr1:153068236-153068286	AoSMC	blood vessel:	n/a
28	chr1:153068231-153068281	HRE	kidney:	n/a
29	chr1:153065613-153065663	Hepatocyte	liver:	n/a
30	chr1:153068236-153068286	HL-60	blood:	n/a
31	chr1:153065613-153065663	HCF	heart:	n/a
32	chr1:153068231-153068281	HUVEC	blood vessel:	n/a
33	chr1:153068231-153068281	NHBE	bronchial:	n/a
34	chr1:153065613-153065663	GM19239	blood:	n/a
35	chr1:153068236-153068286	AG04450	lung:	fetal
36	chr1:153065613-153065663	MCF10A-Er-Src	breast:	n/a
37	chr1:153065613-153065663	NB4	blood:	n/a
38	chr1:153065613-153065663	HEK293	kidney:	embryo
39	chr1:153068236-153068286	Hela-S3	cervix:	n/a
40	chr1:153068231-153068281	SK-N-SH_RA	brain:	n/a
41	chr1:153068231-153068281	HEEpiC	esophagus:	n/a
42	chr1:153068236-153068286	MCF10A-Er-Src	breast:	n/a
43	chr1:153068231-153068281	GM06990	blood:	n/a
44	chr1:153068231-153068281	AG09319	gingival:	n/a
45	chr1:153068231-153068281	NT2-D1	testis:	n/a
46	chr1:153068231-153068281	T-47D	breast:	n/a
47	chr1:153068231-153068281	HAEpiC	amniotic membrane:	n/a
48	chr1:153068236-153068286	K562	blood:	n/a
49	chr1:153065613-153065663	U87	brain:	n/a
50	chr1:153068231-153068281	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153066495..153069197-chr1:153073553..153075701,2	K562	blood:

No data

Variant related genes	Relation type
SPRR2E	TF binding region
SPRR2E	CpG island
ENSG00000203785	chromatin interactions

Extended variants
information (count: 812 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:812 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573410908	chr1:153057113-153057114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535895158	chr1:153057148-153057149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4363386	chr1:153057154-153057155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575993056	chr1:153057164-153057165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs310111	chr1:153057176-153057177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143893067	chr1:153057240-153057241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191404594	chr1:153057282-153057283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540847127	chr1:153057318-153057319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148608591	chr1:153057321-153057322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116546881	chr1:153057357-153057358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182384854	chr1:153057368-153057369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371087172	chr1:153057394-153057395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55906223	chr1:153057397-153057398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs143947773	chr1:153057404-153057405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371535645	chr1:153057426-153057427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531644357	chr1:153057467-153057468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368109158	chr1:153057520-153057521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187825772	chr1:153057528-153057529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371605656	chr1:153057545-153057546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113227103	chr1:153057583-153057584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115608259	chr1:153057590-153057591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577395680	chr1:153057594-153057595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36069093	chr1:153057615-153057616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146882059	chr1:153057686-153057687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567374515	chr1:153057712-153057713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139741003	chr1:153057720-153057721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs310112	chr1:153057762-153057763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556017175	chr1:153057781-153057782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569710074	chr1:153057786-153057787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs310113	chr1:153057789-153057790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs193221126	chr1:153057796-153057797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578253089	chr1:153057805-153057806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs310114	chr1:153057821-153057822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs310115	chr1:153057859-153057860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185649267	chr1:153057870-153057871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574325578	chr1:153057895-153057896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116723253	chr1:153057897-153057898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200378434	chr1:153057898-153057899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58755826	chr1:153057914-153057915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77852298	chr1:153057940-153057941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531796514	chr1:153057946-153057947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151084187	chr1:153057949-153057950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564888636	chr1:153057956-153057957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114331459	chr1:153057967-153057968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112350884	chr1:153057985-153057986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547325866	chr1:153058028-153058029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141009354	chr1:153058042-153058043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529865124	chr1:153058049-153058050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150217186	chr1:153058058-153058059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375131052	chr1:153058086-153058087	Weak transcription	n/a	n/a	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153055200-153068400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:153059800-153060600	Enhancers	K562	blood
3	chr1:153060600-153068200	Weak transcription	K562	blood
4	chr1:153067000-153067400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:153067000-153067400	Enhancers	NHEK	skin
6	chr1:153067200-153067400	Enhancers	Hela-S3	cervix
7	chr1:153067400-153067600	Enhancers	Esophagus	oesophagus
8	chr1:153067400-153068400	Weak transcription	Hela-S3	cervix
9	chr1:153067400-153070200	Weak transcription	NHEK	skin
10	chr1:153067400-153072000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:153068200-153069600	Enhancers	K562	blood
12	chr1:153068400-153069200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:153068400-153069200	Enhancers	Hela-S3	cervix
14	chr1:153069200-153070200	Weak transcription	Hela-S3	cervix
15	chr1:153070200-153072200	Enhancers	NHEK	skin
16	chr1:153070200-153073600	Enhancers	Hela-S3	cervix
17	chr1:153070400-153070600	Enhancers	HMEC	breast
18	chr1:153070800-153072000	Weak transcription	HMEC	breast
19	chr1:153072000-153072600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:153072000-153072600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:153072000-153072800	Enhancers	HMEC	breast
22	chr1:153072200-153072600	Flanking Active TSS	NHEK	skin
23	chr1:153072600-153073400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:153072600-153073800	Enhancers	NHEK	skin
25	chr1:153072600-153077600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:153072800-153073400	Weak transcription	HMEC	breast
27	chr1:153073400-153073600	Enhancers	HMEC	breast
28	chr1:153073400-153073800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:153075400-153075600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:153075600-153075800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:153075800-153076000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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