Variant report

Variant	esv2762142
Chromosome Location	chr1:57082459-57094901
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	chr1:57092994-57093626	A549	lung:	n/a	chr1:57093058-57093067
2	CEBPB	chr1:57091460-57091908	A549	lung:	n/a	chr1:57091687-57091698
3	CEBPB	chr1:57091503-57091882	IMR90	lung:	n/a	chr1:57091687-57091698
4	CEBPB	chr1:57092796-57093507	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr1:57092799-57093460	IMR90	lung:	n/a	n/a
6	CEBPB	chr1:57092293-57092595	Hela-S3	cervix:	n/a	chr1:57092471-57092484
7	CEBPB	chr1:57091589-57091862	A549	lung:	n/a	chr1:57091687-57091698
8	CEBPB	chr1:57091515-57091865	A549	lung:	n/a	chr1:57091687-57091698
9	CEBPB	chr1:57082747-57083207	IMR90	lung:	n/a	n/a
10	CEBPB	chr1:57093068-57093641	A549	lung:	n/a	n/a
11	CEBPB	chr1:57091523-57091867	H1-hESC	embryonic stem cell:	n/a	chr1:57091687-57091698
12	CEBPB	chr1:57093048-57093708	A549	lung:	n/a	n/a
13	CEBPB	chr1:57093096-57093493	A549	lung:	n/a	n/a
14	CEBPB	chr1:57091531-57091860	HepG2	liver:	n/a	chr1:57091687-57091698
15	CEBPB	chr1:57091629-57091868	K562	blood:	n/a	chr1:57091687-57091698
16	CEBPB	chr1:57082915-57083271	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr1:57091428-57091898	Hela-S3	cervix:	n/a	chr1:57091687-57091698
18	CTCF	chr1:57089711-57089812	Kidney_OC	kidney:	n/a	n/a
19	EP300	chr1:57093096-57093585	HepG2	liver:	n/a	chr1:57093238-57093245
20	EP300	chr1:57093073-57093785	A549	lung:	n/a	chr1:57093238-57093245
21	EP300	chr1:57093154-57093597	T-47D	breast:	n/a	chr1:57093238-57093245
22	EP300	chr1:57093034-57093709	A549	lung:	n/a	chr1:57093059-57093068 chr1:57093238-57093245
23	FOS	chr1:57082699-57083167	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr1:57091680-57091693	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:57092295-57092583	MCF10A-Er-Src	breast:	n/a	chr1:57092413-57092424
26	FOS	chr1:57092854-57093181	MCF10A-Er-Src	breast:	n/a	chr1:57093059-57093066 chr1:57093058-57093068 chr1:57093059-57093068 chr1:57093060-57093071 chr1:57093058-57093068
27	FOS	chr1:57082704-57083074	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr1:57092760-57092971	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr1:57092174-57093417	HUVEC	blood vessel:	n/a	chr1:57093059-57093066 chr1:57093058-57093068 chr1:57093059-57093068 chr1:57093060-57093071 chr1:57092413-57092424 chr1:57093058-57093068
30	FOS	chr1:57082708-57083072	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr1:57082689-57083069	MCF10A-Er-Src	breast:	n/a	n/a
32	FOSL2	chr1:57093215-57093495	A549	lung:	n/a	n/a
33	FOSL2	chr1:57092895-57093670	A549	lung:	n/a	chr1:57093059-57093066 chr1:57093058-57093068 chr1:57093059-57093068 chr1:57093060-57093071 chr1:57093058-57093068
34	FOXA1	chr1:57091463-57091749	A549	lung:	n/a	n/a
35	FOXA1	chr1:57093198-57093588	T-47D	breast:	n/a	n/a
36	FOXA1	chr1:57093144-57093530	HepG2	liver:	n/a	n/a
37	FOXA1	chr1:57093138-57093620	HepG2	liver:	n/a	n/a
38	FOXA1	chr1:57093202-57093565	T-47D	breast:	n/a	n/a
39	FOXA2	chr1:57093099-57093789	A549	lung:	n/a	n/a
40	FOXA2	chr1:57093141-57093725	A549	lung:	n/a	n/a
41	FOXA2	chr1:57093204-57093464	HepG2	liver:	n/a	n/a
42	GATA3	chr1:57093155-57093546	T-47D	breast:	n/a	n/a
43	GATA3	chr1:57092169-57092407	T-47D	breast:	n/a	n/a
44	GATA3	chr1:57091296-57091454	SH-SY5Y	brain:	n/a	chr1:57091393-57091402
45	GATA3	chr1:57093164-57093592	A549	lung:	n/a	n/a
46	GATA3	chr1:57092923-57093818	A549	lung:	n/a	n/a
47	GATA3	chr1:57092068-57092723	SK-N-SH	brain:	n/a	chr1:57092413-57092422
48	IKZF1	chr1:57092062-57092138	GM12878	blood:	n/a	n/a
49	JUND	chr1:57093282-57093634	A549	lung:	n/a	n/a
50	KAP1	chr1:57093197-57093755	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:57093284..57096494-chr1:57097572..57100834,3	K562	blood:
2	chr1:57089572..57092375-chr1:57094756..57097462,2	K562	blood:
3	chr1:57089572..57092375-chr1:57094756..57097462,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf168-2	chr1:57093429-57093727	XLOC_000846
2	lnc-C1orf168-2	chr1:57093464-57093727	NONHSAT003457
3	lnc-C1orf168-2	chr1:57093429-57093727	XLOC_000846

Variant related genes	Relation type
ENSG00000225475	TF binding region
ETS2	miRNA target sites

Extended variants
information (count: 479 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:479 , 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	rs113531861	chr1:57082487-57082488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188755762	chr1:57082516-57082517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113101840	chr1:57082548-57082549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573634927	chr1:57082595-57082596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368809117	chr1:57082598-57082599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371714654	chr1:57082625-57082626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181471869	chr1:57082645-57082646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569626133	chr1:57082650-57082651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529133088	chr1:57082678-57082679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1986660	chr1:57082692-57082693	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565988389	chr1:57082694-57082695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138695850	chr1:57082701-57082702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575322889	chr1:57082703-57082704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141938125	chr1:57082852-57082853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146310488	chr1:57082853-57082854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556666351	chr1:57082950-57082951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113001662	chr1:57082952-57082953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186996535	chr1:57083115-57083116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138312914	chr1:57083178-57083179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555495932	chr1:57083302-57083303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572424718	chr1:57083330-57083331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372421855	chr1:57083386-57083387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564423262	chr1:57083455-57083456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577592466	chr1:57083464-57083465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543047213	chr1:57083503-57083504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563437096	chr1:57083510-57083511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191738241	chr1:57083610-57083611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537512293	chr1:57083640-57083641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559556026	chr1:57083689-57083690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182385484	chr1:57083697-57083698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528280405	chr1:57083725-57083726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72666445	chr1:57083766-57083767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571449992	chr1:57083846-57083847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186381257	chr1:57083869-57083870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142892099	chr1:57083956-57083957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570140077	chr1:57083983-57083984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535530029	chr1:57084061-57084062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189649572	chr1:57084098-57084099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376124516	chr1:57084120-57084121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182250267	chr1:57084128-57084129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554560665	chr1:57084142-57084143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2404986	chr1:57084155-57084156	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186842456	chr1:57084176-57084177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372228893	chr1:57084199-57084200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563090419	chr1:57084219-57084220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573702054	chr1:57084223-57084224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143995344	chr1:57084259-57084260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12085402	chr1:57084276-57084277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs560618195	chr1:57084334-57084335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148665149	chr1:57084344-57084345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57081600-57082600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:57082600-57083200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:57082600-57084200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:57082800-57083200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:57082800-57083200	Enhancers	Hela-S3	cervix
6	chr1:57082800-57083400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:57082800-57083600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:57082800-57083600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:57083000-57083200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:57083000-57083200	Enhancers	NHDF-Ad	bronchial
11	chr1:57083200-57091600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:57085400-57085800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:57085800-57089600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:57090800-57091800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:57090800-57093800	Enhancers	Hela-S3	cervix
16	chr1:57091000-57091200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:57091000-57092200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:57091000-57093600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:57091000-57093800	Enhancers	NHDF-Ad	bronchial
20	chr1:57091200-57092000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:57091200-57092800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:57091200-57093600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:57091400-57091600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:57091400-57092400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:57091400-57093000	Enhancers	A549	lung
26	chr1:57091400-57093800	Enhancers	HSMM	muscle
27	chr1:57091400-57093800	Enhancers	NHLF	lung
28	chr1:57091400-57093800	Enhancers	Osteobl	bone
29	chr1:57091600-57091800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:57091600-57092200	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:57091600-57092400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:57091600-57092600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:57091600-57093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:57091600-57093600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:57091800-57092000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:57091800-57092800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:57091800-57093400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:57091800-57093800	Enhancers	NH-A	brain
39	chr1:57092000-57092200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:57092000-57092400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:57092200-57093000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:57092200-57093400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:57092200-57093400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:57092400-57092600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr1:57092400-57093000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:57092400-57098800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:57092600-57098200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:57092800-57093200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:57093000-57093200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:57093000-57093200	Flanking Active TSS	A549	lung

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