Variant report

Variant	esv2763067
Chromosome Location	chr14:42864428-42894766
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	ATF2	chr14:42890942-42891236	GM12878	blood:	n/a	n/a
2	BATF	chr14:42890963-42891282	GM12878	blood:	n/a	chr14:42891116-42891127 chr14:42891154-42891165
3	BATF	chr14:42890928-42891203	GM12878	blood:	n/a	chr14:42891116-42891127 chr14:42891154-42891165
4	BCL11A	chr14:42890931-42891249	GM12878	blood:	n/a	n/a
5	CEBPB	chr14:42868466-42868631	HepG2	liver:	n/a	n/a
6	CUX1	chr14:42891931-42892036	GM12878	blood:	n/a	n/a
7	E2F4	chr14:42875600-42875762	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr14:42889612-42889810	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr14:42869908-42870214	MCF10A-Er-Src	breast:	n/a	n/a
10	EBF1	chr14:42891004-42891128	GM12878	blood:	n/a	n/a
11	EBF1	chr14:42876422-42877030	GM12878	blood:	n/a	n/a
12	EBF1	chr14:42869979-42870672	GM12878	blood:	n/a	chr14:42870342-42870352 chr14:42870342-42870353
13	EBF1	chr14:42875624-42875814	GM12878	blood:	n/a	chr14:42875734-42875745
14	EBF1	chr14:42870254-42870453	GM12878	blood:	n/a	chr14:42870342-42870352 chr14:42870342-42870353
15	FOS	chr14:42891046-42891239	MCF10A-Er-Src	breast:	n/a	chr14:42891225-42891237
16	FOS	chr14:42890993-42891288	MCF10A-Er-Src	breast:	n/a	chr14:42891225-42891237
17	FOS	chr14:42890958-42891278	MCF10A-Er-Src	breast:	n/a	chr14:42891225-42891237
18	FOS	chr14:42891002-42891282	MCF10A-Er-Src	breast:	n/a	chr14:42891225-42891237
19	FOS	chr14:42882056-42882305	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr14:42886640-42886740	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr14:42882054-42882337	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr14:42882050-42882265	MCF10A-Er-Src	breast:	n/a	n/a
23	JUND	chr14:42874909-42875113	HepG2	liver:	n/a	n/a
24	JUND	chr14:42870483-42870735	HepG2	liver:	n/a	chr14:42870588-42870597 chr14:42870587-42870596 chr14:42870586-42870598 chr14:42870560-42870569 chr14:42870588-42870596 chr14:42870588-42870595 chr14:42870586-42870597
25	MAFF	chr14:42888056-42888303	HepG2	liver:	n/a	chr14:42888179-42888197
26	MAFF	chr14:42871029-42871225	HepG2	liver:	n/a	n/a
27	MAFK	chr14:42888034-42888310	HepG2	liver:	n/a	chr14:42888180-42888195
28	MAFK	chr14:42888023-42888336	HepG2	liver:	n/a	chr14:42888180-42888195
29	MAFK	chr14:42871007-42871243	HepG2	liver:	n/a	n/a
30	MAFK	chr14:42877529-42877706	HepG2	liver:	n/a	n/a
31	MAFK	chr14:42871066-42871250	HepG2	liver:	n/a	n/a
32	MAX	chr14:42884535-42884676	NB4	blood:	n/a	chr14:42884600-42884610 chr14:42884598-42884611 chr14:42884599-42884610 chr14:42884600-42884609 chr14:42884563-42884573 chr14:42884599-42884609 chr14:42884600-42884610 chr14:42884599-42884610 chr14:42884599-42884610 chr14:42884600-42884609 chr14:42884598-42884611 chr14:42884601-42884608
33	MYC	chr14:42876134-42876179	MCF-7	breast:	n/a	n/a
34	NFIC	chr14:42890887-42891352	GM12878	blood:	n/a	n/a
35	NFYB	chr14:42865684-42865859	GM12878	blood:	n/a	n/a
36	POLR2A	chr14:42873185-42873208	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr14:42868161-42868296	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr14:42869083-42869161	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr14:42883863-42883926	MCF-7	breast:	n/a	n/a
40	POLR2A	chr14:42867471-42867653	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr14:42865139-42865489	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr14:42888047-42888247	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr14:42875912-42875937	GM12878	blood:	n/a	n/a
44	POLR2A	chr14:42886552-42886747	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr14:42890019-42890044	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr14:42867842-42867859	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr14:42882582-42882645	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr14:42866292-42866433	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr14:42875944-42876020	GM12878	blood:	n/a	n/a
50	POLR2A	chr14:42872392-42872493	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:42871630..42873900-chr14:42876970..42879114,2	MCF-7	breast:
2	chr14:42871630..42873900-chr14:42876970..42879114,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-2	chr14:42881776-42883030	NONHSAT036588
2	lnc-RP11-214N1.1.1-2	chr14:42881776-42882409	ENSG00000258850.1

Variant related genes	Relation type
ENSG00000258850	TF binding region

Extended variants
information (count: 402 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7140476	chr14:42864428-42864429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564196984	chr14:42864447-42864448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61143507	chr14:42864451-42864452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562966927	chr14:42864488-42864489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550300509	chr14:42864533-42864534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73318714	chr14:42864620-42864621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373522517	chr14:42864648-42864649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548131190	chr14:42864649-42864650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551588621	chr14:42864670-42864671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375561981	chr14:42864679-42864680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539811194	chr14:42864721-42864722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560830094	chr14:42864738-42864739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201001898	chr14:42864742-42864743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201514820	chr14:42864756-42864757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115950242	chr14:42864789-42864790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10141262	chr14:42864833-42864834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs137929903	chr14:42864854-42864855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17112945	chr14:42864933-42864934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574315956	chr14:42864947-42864948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35413023	chr14:42864989-42864990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541653673	chr14:42865000-42865001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186276817	chr14:42865039-42865040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368586978	chr14:42865096-42865097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572289100	chr14:42865103-42865104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545779425	chr14:42865115-42865116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563927722	chr14:42865128-42865129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531394916	chr14:42865184-42865185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543556519	chr14:42865251-42865252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75623248	chr14:42865302-42865303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191037968	chr14:42865309-42865310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10498366	chr14:42865364-42865365	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566374782	chr14:42865365-42865366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75323737	chr14:42865395-42865396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551713394	chr14:42865445-42865446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183641757	chr14:42865482-42865483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537527011	chr14:42865488-42865489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555421813	chr14:42865616-42865617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10144457	chr14:42865617-42865618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs555182624	chr14:42865627-42865628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188481556	chr14:42865642-42865643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535258741	chr14:42865643-42865644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143384895	chr14:42865666-42865667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572255179	chr14:42865681-42865682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369298976	chr14:42865683-42865684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545786366	chr14:42865688-42865689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147169438	chr14:42865695-42865696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372838486	chr14:42865699-42865700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543469494	chr14:42865713-42865714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561750145	chr14:42865720-42865721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117061048	chr14:42865768-42865769	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42864200-42865200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:42865200-42866200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:42868000-42869200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:42881000-42882000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:42890200-42891200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:42890400-42890600	Bivalent/Poised TSS	Gastric	stomach
7	chr14:42890400-42890800	Enhancers	NHEK	skin
8	chr14:42890400-42891000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:42890600-42890800	Active TSS	Gastric	stomach
10	chr14:42891000-42891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:42891400-42891600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:42891600-42898000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:42893800-42894600	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:42894600-42897800	Weak transcription	Primary B cells from peripheral blood	blood

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