Variant report

Variant	nsv1046806
Chromosome Location	chr14:41815453-41858094
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	ATF1	chr14:41852997-41853203	K562	blood:	n/a	n/a
2	ATF3	chr14:41831395-41831637	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr14:41853134-41853209	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr14:41855036-41855437	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr14:41843283-41843667	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:41843330-41843647	A549	lung:	n/a	n/a
7	CEBPB	chr14:41843358-41843671	IMR90	lung:	n/a	n/a
8	CEBPB	chr14:41843343-41843675	MCF-7	breast:	n/a	n/a
9	CEBPB	chr14:41825972-41826222	HepG2	liver:	n/a	chr14:41826057-41826068
10	CEBPB	chr14:41843406-41843570	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr14:41842640-41842790	HepG2	liver:	n/a	n/a
12	E2F4	chr14:41823575-41823730	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr14:41846643-41846843	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr14:41853549-41854377	ECC-1	luminal epithelium:	n/a	n/a
15	EP300	chr14:41854870-41855547	ECC-1	luminal epithelium:	n/a	chr14:41855125-41855132
16	EP300	chr14:41854836-41855553	ECC-1	luminal epithelium:	n/a	chr14:41855125-41855132
17	ESR1	chr14:41854946-41855497	ECC-1	luminal epithelium:	n/a	n/a
18	ESR1	chr14:41854969-41855441	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr14:41854986-41855469	ECC-1	luminal epithelium:	n/a	n/a
20	ESR1	chr14:41854941-41855476	ECC-1	luminal epithelium:	n/a	n/a
21	ESR1	chr14:41854989-41855495	ECC-1	luminal epithelium:	n/a	n/a
22	FOS	chr14:41817955-41818281	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr14:41831453-41831572	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr14:41817971-41818266	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr14:41817991-41818263	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr14:41831411-41831691	MCF10A-Er-Src	breast:	n/a	n/a
27	FOXM1	chr14:41854682-41855573	ECC-1	luminal epithelium:	n/a	n/a
28	FOXM1	chr14:41854764-41855635	ECC-1	luminal epithelium:	n/a	n/a
29	GATA2	chr14:41838616-41838910	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr14:41817162-41817412	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr14:41829001-41829669	MCF-7	breast:	n/a	chr14:41829248-41829257 chr14:41829223-41829232 chr14:41829250-41829257 chr14:41829225-41829235
32	JUN	chr14:41843365-41843665	HepG2	liver:	n/a	chr14:41843499-41843512
33	JUN	chr14:41849449-41849529	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUN	chr14:41849257-41849609	HepG2	liver:	n/a	chr14:41849427-41849440 chr14:41849428-41849437
35	JUND	chr14:41849248-41849619	HepG2	liver:	n/a	chr14:41849428-41849437
36	JUND	chr14:41837472-41837756	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr14:41843325-41843683	HepG2	liver:	n/a	n/a
38	MAFF	chr14:41824202-41824376	HepG2	liver:	n/a	chr14:41824262-41824280
39	MAFK	chr14:41828604-41828657	HepG2	liver:	n/a	chr14:41828632-41828647
40	MAFK	chr14:41828566-41828639	HepG2	liver:	n/a	n/a
41	MAFK	chr14:41850478-41850509	HepG2	liver:	n/a	n/a
42	MAX	chr14:41855120-41855387	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr14:41831360-41831688	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr14:41831312-41831737	MCF-7	breast:	n/a	n/a
45	MAX	chr14:41831347-41831679	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr14:41831385-41831700	H1-hESC	embryonic stem cell:	n/a	n/a
47	MYC	chr14:41819850-41819965	MCF-7	breast:	n/a	n/a
48	MYC	chr14:41819754-41819993	MCF-7	breast:	n/a	n/a
49	MYC	chr14:41819746-41819847	MCF-7	breast:	n/a	n/a
50	MYC	chr14:41831377-41831691	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:41856073..41858584-chr14:41859093..41860987,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221695	TF binding region

Extended variants
information (count: 155 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377047399	chr14:41817166-41817167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs117842894	chr14:41817174-41817175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192604710	chr14:41817191-41817192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs71409999	chr14:41817242-41817243	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs28657626	chr14:41817263-41817264	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369914018	chr14:41817297-41817298	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs554210784	chr14:41817360-41817361	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs71440734	chr14:41817370-41817371	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs398118112	chr14:41817377-41817378	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs150719931	chr14:41817394-41817395	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs138995653	chr14:41817433-41817434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117225853	chr14:41817505-41817506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145018182	chr14:41817542-41817543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183357449	chr14:41817551-41817552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs8008330	chr14:41817569-41817570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147601123	chr14:41817635-41817636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs8007175	chr14:41817660-41817661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560182480	chr14:41817683-41817684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555366064	chr14:41817686-41817687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529359545	chr14:41817715-41817716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116845961	chr14:41817724-41817725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187722732	chr14:41817766-41817767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571020302	chr14:41817787-41817788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538535889	chr14:41817816-41817817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556553593	chr14:41817851-41817852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75124594	chr14:41817870-41817871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535857829	chr14:41817879-41817880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554273876	chr14:41817918-41817919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs8011741	chr14:41817982-41817983	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577778086	chr14:41818055-41818056	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs558334210	chr14:41818063-41818064	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs576934144	chr14:41818073-41818074	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs142040266	chr14:41818080-41818081	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs562623777	chr14:41818117-41818118	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs530134329	chr14:41818141-41818142	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs542239811	chr14:41818193-41818194	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs560606822	chr14:41818268-41818269	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs527793065	chr14:41818323-41818324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552660227	chr14:41818331-41818332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201626305	chr14:41818339-41818340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112013893	chr14:41818340-41818341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532020508	chr14:41818346-41818347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191445379	chr14:41818391-41818392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550485130	chr14:41818410-41818411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568639560	chr14:41818424-41818425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114396542	chr14:41818428-41818429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184204173	chr14:41818495-41818496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566084342	chr14:41818513-41818514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533662782	chr14:41818524-41818525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144858283	chr14:41818530-41818531	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41817200-41818600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:41817200-41818800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:41818400-41819000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:41819400-41820000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:41819800-41820000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:41824400-41825800	Enhancers	Fetal Lung	lung
7	chr14:41837200-41837400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:41837400-41837600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:41837400-41837600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
10	chr14:41855000-41855400	Enhancers	Cortex derived primary cultured neurospheres	brain

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