Variant report

Variant	esv1844336
Chromosome Location	chr1:187464954-187483206
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	CEBPB	chr1:187482382-187482661	H1-hESC	embryonic stem cell:	n/a	chr1:187482505-187482516
2	CEBPB	chr1:187478202-187478575	A549	lung:	n/a	chr1:187478426-187478437
3	CEBPB	chr1:187482389-187482636	Hela-S3	cervix:	n/a	chr1:187482505-187482516
4	CEBPB	chr1:187482420-187482652	HepG2	liver:	n/a	chr1:187482505-187482516
5	CEBPB	chr1:187482337-187482679	IMR90	lung:	n/a	chr1:187482505-187482516
6	CEBPB	chr1:187478253-187478571	HepG2	liver:	n/a	chr1:187478426-187478437
7	CEBPB	chr1:187478212-187478629	Hela-S3	cervix:	n/a	chr1:187478426-187478437
8	CEBPB	chr1:187478234-187478572	MCF-7	breast:	n/a	chr1:187478426-187478437
9	CEBPB	chr1:187482374-187482668	A549	lung:	n/a	chr1:187482505-187482516
10	CEBPB	chr1:187482329-187482727	MCF-7	breast:	n/a	chr1:187482505-187482516
11	CEBPB	chr1:187478243-187478605	IMR90	lung:	n/a	chr1:187478426-187478437
12	CTCF	chr1:187482504-187482631	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr1:187482380-187482530	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr1:187482500-187482650	BE2_C	brain:	n/a	n/a
15	CTCF	chr1:187482400-187482550	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr1:187482479-187482661	Gliobla	brain:	n/a	n/a
17	CTCF	chr1:187482393-187482624	GM12878	blood:	n/a	n/a
18	CTCF	chr1:187482440-187482590	A549	lung:	n/a	n/a
19	CTCF	chr1:187482511-187482610	HepG2	liver:	n/a	n/a
20	CTCF	chr1:187482440-187482590	GM12873	blood:	n/a	n/a
21	CTCF	chr1:187482460-187482610	HEK293	kidney:	n/a	n/a
22	CTCF	chr1:187482487-187482489	A549	lung:	n/a	n/a
23	CTCF	chr1:187482440-187482590	SAEC	small airway:	n/a	n/a
24	CTCF	chr1:187482453-187482600	HepG2	liver:	n/a	n/a
25	CTCF	chr1:187482360-187482510	HCT-116	colon:	n/a	n/a
26	CTCF	chr1:187482400-187482550	BE2_C	brain:	n/a	n/a
27	CTCF	chr1:187482435-187482595	IMR90	lung:	n/a	n/a
28	CTCF	chr1:187482480-187482630	GM12875	blood:	n/a	n/a
29	CTCF	chr1:187482465-187482667	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:187482480-187482630	NHEK	skin:	n/a	n/a
31	CTCF	chr1:187482501-187482561	GM12878	blood:	n/a	n/a
32	CTCF	chr1:187482490-187482585	A549	lung:	n/a	n/a
33	CTCF	chr1:187482540-187482690	HCT-116	colon:	n/a	n/a
34	CTCF	chr1:187482460-187482610	HMEC	breast:	n/a	n/a
35	CTCF	chr1:187482480-187482630	MCF-7	breast:	n/a	n/a
36	CTCF	chr1:187482446-187482652	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:187482480-187482630	NB4	blood:	n/a	n/a
38	CTCF	chr1:187482440-187482590	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr1:187479180-187479330	GM12866	blood:	n/a	n/a
40	FOS	chr1:187482210-187482548	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr1:187482387-187482631	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr1:187478263-187478666	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr1:187478241-187478707	MCF10A-Er-Src	breast:	n/a	chr1:187478683-187478695
44	FOS	chr1:187478271-187478706	MCF10A-Er-Src	breast:	n/a	chr1:187478683-187478695
45	FOS	chr1:187482233-187482535	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr1:187478343-187478594	MCF10A-Er-Src	breast:	n/a	n/a
47	FOSL2	chr1:187478150-187478708	A549	lung:	n/a	chr1:187478683-187478695
48	FOXA1	chr1:187478058-187478471	HepG2	liver:	n/a	chr1:187478299-187478311 chr1:187478297-187478312
49	FOXA1	chr1:187478099-187478478	HepG2	liver:	n/a	chr1:187478299-187478311 chr1:187478297-187478312
50	FOXA1	chr1:187478163-187478456	HepG2	liver:	n/a	chr1:187478299-187478311 chr1:187478297-187478312

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:187460603..187462421-chr1:187469087..187470836,2	MCF-7	breast:
2	chr1:187445527..187446417-chr1:187482131..187482720,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTGS2-5	chr1:187476138-187476251	NONHSAT008464
2	lnc-PTGS2-5	chr1:187475970-187476115	NONHSAT008464

Variant related genes	Relation type
ENSG00000271558	TF binding region

Extended variants
information (count: 294 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529724362	chr1:187469084-187469085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150089214	chr1:187469139-187469140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560059450	chr1:187469164-187469165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532348620	chr1:187469181-187469182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184710851	chr1:187469219-187469220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2383651	chr1:187469234-187469235	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs545132241	chr1:187469248-187469249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537793719	chr1:187469275-187469276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75791445	chr1:187469304-187469305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557455198	chr1:187469314-187469315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189029519	chr1:187469318-187469319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181450161	chr1:187469328-187469329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531516142	chr1:187469351-187469352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554324006	chr1:187469370-187469371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149282868	chr1:187469426-187469427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565893427	chr1:187469427-187469428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575072707	chr1:187469432-187469433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540026032	chr1:187469535-187469536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186464128	chr1:187469559-187469560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74135634	chr1:187469570-187469571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4465161	chr1:187469578-187469579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4233129	chr1:187469590-187469591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs4506428	chr1:187469604-187469605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs71635429	chr1:187469633-187469634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376617600	chr1:187469634-187469635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74135635	chr1:187469665-187469666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532157834	chr1:187469696-187469697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552342257	chr1:187469763-187469764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541350107	chr1:187469777-187469778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531615698	chr1:187469828-187469829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4007480	chr1:187469836-187469837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548526214	chr1:187469837-187469838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558712660	chr1:187469844-187469845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398103459	chr1:187469845-187469846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74639569	chr1:187469846-187469847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191290569	chr1:187469898-187469899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534195052	chr1:187469916-187469917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146356902	chr1:187469937-187469938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570919980	chr1:187469939-187469940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139722519	chr1:187469992-187469993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556701062	chr1:187470001-187470002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576586983	chr1:187470015-187470016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142970483	chr1:187470019-187470020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577100327	chr1:187470029-187470030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373962815	chr1:187470082-187470083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555653727	chr1:187470108-187470109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541300013	chr1:187470114-187470115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561633637	chr1:187470172-187470173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146144013	chr1:187470175-187470176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539841959	chr1:187470221-187470222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	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
Prostate cancer	18632612	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:187469000-187469800	Enhancers	Fetal Heart	heart
2	chr1:187469800-187473800	Weak transcription	Fetal Heart	heart
3	chr1:187470000-187471400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:187471400-187471800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:187473800-187474400	Enhancers	Fetal Heart	heart
6	chr1:187473800-187474400	Enhancers	HUVEC	blood vessel
7	chr1:187477400-187478200	Enhancers	Hela-S3	cervix
8	chr1:187477600-187477800	Enhancers	Pancreas	Pancrea
9	chr1:187478200-187479200	Weak transcription	Hela-S3	cervix
10	chr1:187479200-187479400	Enhancers	Hela-S3	cervix
11	chr1:187482400-187482600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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