Variant report

Variant	esv21411
Chromosome Location	chr12:39458222-39478357
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	BCL11A	chr12:39475718-39476078	GM12878	blood:	n/a	n/a
2	BHLHE40	chr12:39475682-39476110	GM12878	blood:	n/a	n/a
3	CEBPB	chr12:39466476-39466840	HepG2	liver:	n/a	chr12:39466655-39466666
4	CEBPB	chr12:39474919-39475135	HepG2	liver:	n/a	chr12:39474997-39475008
5	CEBPB	chr12:39461683-39461938	K562	blood:	n/a	chr12:39461820-39461831 chr12:39461818-39461831 chr12:39461818-39461831 chr12:39461818-39461829
6	CEBPB	chr12:39466505-39466815	K562	blood:	n/a	chr12:39466655-39466666
7	CEBPB	chr12:39466485-39466846	IMR90	lung:	n/a	chr12:39466655-39466666
8	CEBPB	chr12:39461593-39461945	A549	lung:	n/a	chr12:39461820-39461831 chr12:39461818-39461831 chr12:39461818-39461831 chr12:39461818-39461829
9	CEBPB	chr12:39461597-39461932	MCF-7	breast:	n/a	chr12:39461820-39461831 chr12:39461818-39461831 chr12:39461818-39461831 chr12:39461818-39461829
10	CEBPB	chr12:39461728-39461888	HepG2	liver:	n/a	chr12:39461820-39461831 chr12:39461818-39461831 chr12:39461818-39461831 chr12:39461818-39461829
11	CEBPB	chr12:39461646-39462000	HepG2	liver:	n/a	chr12:39461820-39461831 chr12:39461818-39461831 chr12:39461818-39461831 chr12:39461818-39461829
12	CEBPB	chr12:39466514-39466779	Hela-S3	cervix:	n/a	chr12:39466655-39466666
13	CEBPB	chr12:39461641-39461974	A549	lung:	n/a	chr12:39461820-39461831 chr12:39461818-39461831 chr12:39461818-39461831 chr12:39461818-39461829
14	CEBPB	chr12:39466513-39466799	H1-hESC	embryonic stem cell:	n/a	chr12:39466655-39466666
15	CEBPB	chr12:39461605-39461933	MCF-7	breast:	n/a	chr12:39461820-39461831 chr12:39461818-39461831 chr12:39461818-39461831 chr12:39461818-39461829
16	CEBPB	chr12:39466479-39466847	A549	lung:	n/a	chr12:39466655-39466666
17	CEBPB	chr12:39461650-39461973	Hela-S3	cervix:	n/a	chr12:39461820-39461831 chr12:39461818-39461831 chr12:39461818-39461831 chr12:39461818-39461829
18	CHD2	chr12:39475602-39476061	GM12878	blood:	n/a	n/a
19	CTCF	chr12:39465500-39465558	MCF-7	breast:	n/a	n/a
20	CTCF	chr12:39463182-39463229	A549	lung:	n/a	n/a
21	CUX1	chr12:39475602-39475743	GM12878	blood:	n/a	n/a
22	E2F4	chr12:39467085-39467140	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr12:39464546-39464792	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr12:39461692-39461994	MCF10A-Er-Src	breast:	n/a	n/a
25	EBF1	chr12:39475622-39476114	GM12878	blood:	n/a	n/a
26	EBF1	chr12:39472456-39472611	GM12878	blood:	n/a	chr12:39472489-39472500
27	EP300	chr12:39475589-39476174	GM12878	blood:	n/a	n/a
28	EP300	chr12:39475688-39476089	GM12878	blood:	n/a	n/a
29	EP300	chr12:39475655-39476160	GM12878	blood:	n/a	n/a
30	FOS	chr12:39464571-39464987	MCF10A-Er-Src	breast:	n/a	chr12:39464750-39464762 chr12:39464752-39464761 chr12:39464752-39464760 chr12:39464753-39464760 chr12:39464751-39464761
31	FOS	chr12:39465495-39465722	MCF10A-Er-Src	breast:	n/a	chr12:39465575-39465582 chr12:39465573-39465584
32	FOS	chr12:39464181-39464990	MCF10A-Er-Src	breast:	n/a	chr12:39464750-39464762 chr12:39464752-39464761 chr12:39464752-39464760 chr12:39464753-39464760 chr12:39464751-39464761
33	FOS	chr12:39465541-39465739	MCF10A-Er-Src	breast:	n/a	chr12:39465575-39465582 chr12:39465573-39465584
34	FOS	chr12:39461605-39461994	MCF10A-Er-Src	breast:	n/a	chr12:39461772-39461780
35	FOS	chr12:39462204-39462233	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr12:39461622-39461979	MCF10A-Er-Src	breast:	n/a	chr12:39461772-39461780
37	FOS	chr12:39464514-39464977	MCF10A-Er-Src	breast:	n/a	chr12:39464750-39464762 chr12:39464752-39464761 chr12:39464752-39464760 chr12:39464753-39464760 chr12:39464751-39464761
38	FOS	chr12:39464546-39464989	MCF10A-Er-Src	breast:	n/a	chr12:39464750-39464762 chr12:39464752-39464761 chr12:39464752-39464760 chr12:39464753-39464760 chr12:39464751-39464761
39	FOS	chr12:39461621-39461973	MCF10A-Er-Src	breast:	n/a	chr12:39461772-39461780
40	FOS	chr12:39461605-39461995	MCF10A-Er-Src	breast:	n/a	chr12:39461772-39461780
41	FOS	chr12:39465491-39465751	MCF10A-Er-Src	breast:	n/a	chr12:39465575-39465582 chr12:39465573-39465584
42	FOS	chr12:39463982-39464224	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr12:39475244-39475362	MCF10A-Er-Src	breast:	n/a	n/a
44	GATA2	chr12:39471092-39471373	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr12:39471066-39471339	SH-SY5Y	brain:	n/a	n/a
46	MAFK	chr12:39474110-39474188	HepG2	liver:	n/a	n/a
47	MAX	chr12:39461635-39461987	NB4	blood:	n/a	n/a
48	MAX	chr12:39459371-39459429	NB4	blood:	n/a	n/a
49	MAX	chr12:39458846-39459147	NB4	blood:	n/a	chr12:39459027-39459037
50	MYC	chr12:39461609-39462103	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39447659..39449539-chr12:39460077..39462876,2	K562	blood:

Variant related genes	Relation type
ENSG00000257237	TF binding region

Extended variants
information (count: 381 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185648553	chr12:39458267-39458268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs61937613	chr12:39458282-39458283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542115101	chr12:39458291-39458292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554260066	chr12:39458292-39458293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573759236	chr12:39458302-39458303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536252430	chr12:39458316-39458317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75180216	chr12:39458340-39458341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575963907	chr12:39458352-39458353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74494640	chr12:39458395-39458396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150759577	chr12:39458451-39458452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546169463	chr12:39458465-39458466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561797694	chr12:39458502-39458503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372084534	chr12:39458507-39458508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190112133	chr12:39458511-39458512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540827542	chr12:39458516-39458517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561039331	chr12:39458527-39458528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1868567	chr12:39458551-39458552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs139569514	chr12:39458552-39458553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145121604	chr12:39458584-39458585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183112283	chr12:39458604-39458605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552073737	chr12:39458607-39458608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571816215	chr12:39458620-39458621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527899513	chr12:39458686-39458687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116516321	chr12:39458737-39458738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567469623	chr12:39458768-39458769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536330051	chr12:39458779-39458780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188475585	chr12:39458831-39458832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372319031	chr12:39458835-39458836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73262463	chr12:39458873-39458874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538619474	chr12:39458912-39458913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147153219	chr12:39458945-39458946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572521584	chr12:39459014-39459015	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572199546	chr12:39459032-39459033	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191993158	chr12:39459068-39459069	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542829556	chr12:39459086-39459087	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116388988	chr12:39459095-39459096	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140278620	chr12:39459124-39459125	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543521994	chr12:39459128-39459129	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115629732	chr12:39459131-39459132	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9668419	chr12:39459159-39459160	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545443613	chr12:39459204-39459205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184014730	chr12:39459269-39459270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565577691	chr12:39459308-39459309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531688605	chr12:39459362-39459363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113153855	chr12:39459366-39459367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34238534	chr12:39459367-39459368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187767576	chr12:39459387-39459388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532538131	chr12:39459417-39459418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376435661	chr12:39459474-39459475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191189036	chr12:39459491-39459492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39455400-39463000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:39457000-39459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:39457600-39458400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:39458400-39459400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr12:39458800-39462400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:39459000-39459200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:39459200-39459400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:39459200-39461800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:39461000-39462400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:39461800-39462400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:39463000-39463400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:39464600-39465000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:39464600-39465000	Enhancers	HMEC	breast
14	chr12:39469200-39469800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:39471200-39471400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:39471600-39471800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:39475600-39476000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:39475600-39476000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr12:39476000-39477800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:39477800-39478000	Enhancers	Pancreatic Islets	Pancreatic Islet

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