Variant report

Variant	nsv817632
Chromosome Location	chr14:47247399-47366340
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	BACH1	chr14:47354745-47355139	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:47354811-47355132	K562	blood:	n/a	n/a
3	BATF	chr14:47356455-47356637	GM12878	blood:	n/a	chr14:47356567-47356578
4	BATF	chr14:47356425-47356723	GM12878	blood:	n/a	chr14:47356567-47356578
5	BCL11A	chr14:47287397-47287658	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr14:47303861-47303947	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr14:47353249-47353482	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:47362090-47362394	IMR90	lung:	n/a	chr14:47362259-47362270
9	CEBPB	chr14:47280156-47280467	HepG2	liver:	n/a	chr14:47280326-47280337 chr14:47280326-47280339 chr14:47280326-47280339
10	CEBPB	chr14:47288787-47289125	A549	lung:	n/a	chr14:47288961-47288972
11	CEBPB	chr14:47303607-47303836	A549	lung:	n/a	chr14:47303681-47303692
12	CEBPB	chr14:47362102-47362436	HepG2	liver:	n/a	chr14:47362259-47362270
13	CEBPB	chr14:47362170-47362344	H1-hESC	embryonic stem cell:	n/a	chr14:47362259-47362270
14	CEBPB	chr14:47288797-47289144	HepG2	liver:	n/a	chr14:47288961-47288972
15	CEBPB	chr14:47353274-47353450	A549	lung:	n/a	n/a
16	CEBPB	chr14:47303627-47303827	HepG2	liver:	n/a	chr14:47303681-47303692
17	CEBPB	chr14:47362166-47362402	A549	lung:	n/a	chr14:47362259-47362270
18	CHD1	chr14:47251413-47251417	GM12878	blood:	n/a	n/a
19	CTCF	chr14:47338869-47338905	GM13976	blood:	n/a	n/a
20	CTCF	chr14:47250251-47250282	MCF-7	breast:	n/a	n/a
21	CTCF	chr14:47255117-47255134	Medullo	brain:	n/a	n/a
22	CTCF	chr14:47268380-47268530	GM12865	blood:	n/a	n/a
23	CTCF	chr14:47344468-47344503	Lung_OC	lung:	n/a	n/a
24	E2F4	chr14:47269764-47270128	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr14:47325842-47326362	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr14:47287375-47287714	H1-hESC	embryonic stem cell:	n/a	n/a
27	ESR1	chr14:47310585-47310860	ECC-1	luminal epithelium:	n/a	n/a
28	IRF3	chr14:47311472-47311648	GM12878	blood:	n/a	n/a
29	IRF4	chr14:47356418-47356642	GM12878	blood:	n/a	n/a
30	JUND	chr14:47287371-47287664	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr14:47279767-47279878	HepG2	liver:	n/a	chr14:47279817-47279827 chr14:47279816-47279827 chr14:47279817-47279827 chr14:47279817-47279827 chr14:47279817-47279827 chr14:47279817-47279826
32	JUND	chr14:47362156-47362391	HepG2	liver:	n/a	n/a
33	JUND	chr14:47354849-47354960	HepG2	liver:	n/a	chr14:47354933-47354944
34	KAP1	chr14:47251449-47251905	HEK293	kidney:	n/a	n/a
35	MAFF	chr14:47354800-47355067	K562	blood:	n/a	chr14:47354940-47354958
36	MAFF	chr14:47354770-47355127	HepG2	liver:	n/a	chr14:47354940-47354958
37	MAFF	chr14:47330993-47331333	HepG2	liver:	n/a	chr14:47331153-47331167 chr14:47331154-47331172
38	MAFF	chr14:47258246-47258574	HepG2	liver:	n/a	n/a
39	MAFF	chr14:47331055-47331279	K562	blood:	n/a	chr14:47331153-47331167 chr14:47331154-47331172
40	MAFF	chr14:47258371-47258468	K562	blood:	n/a	n/a
41	MAFK	chr14:47258235-47258556	IMR90	lung:	n/a	chr14:47258398-47258409
42	MAFK	chr14:47284639-47284986	HepG2	liver:	n/a	chr14:47284810-47284820
43	MAFK	chr14:47331088-47331288	K562	blood:	n/a	chr14:47331155-47331170 chr14:47331150-47331170 chr14:47331157-47331166 chr14:47331155-47331171 chr14:47331152-47331168 chr14:47331153-47331167
44	MAFK	chr14:47284342-47284348	HepG2	liver:	n/a	n/a
45	MAFK	chr14:47354784-47355109	IMR90	lung:	n/a	chr14:47354941-47354956
46	MAFK	chr14:47362016-47362030	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAFK	chr14:47354760-47355129	HepG2	liver:	n/a	chr14:47354941-47354956
48	MAFK	chr14:47258216-47258568	HepG2	liver:	n/a	chr14:47258398-47258409
49	MAFK	chr14:47258338-47258415	K562	blood:	n/a	chr14:47258398-47258409
50	MAFK	chr14:47330983-47331336	IMR90	lung:	n/a	chr14:47331155-47331170 chr14:47331150-47331170 chr14:47331157-47331166 chr14:47331155-47331171 chr14:47331152-47331168 chr14:47331153-47331167

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:47311141-47311191	AG04449	skin:	fetal
2	chr14:47311141-47311191	AG04449	skin:	fetal
3	chr14:47310377-47310427	NB4	blood:	n/a
4	chr14:47310377-47310427	HL-60	blood:	n/a
5	chr14:47311141-47311191	SK-N-MC	brain:	n/a
6	chr14:47310377-47310427	Hela-S3	cervix:	n/a
7	chr14:47311141-47311191	HepG2	liver:	n/a
8	chr14:47310377-47310427	HUVEC	blood vessel:	n/a
9	chr14:47311141-47311191	K562	blood:	n/a
10	chr14:47310377-47310427	HRPEpiC	eye:	n/a
11	chr14:47311141-47311191	CMK	blood:	n/a
12	chr14:47310377-47310427	HIPEpiC	eye:	n/a
13	chr14:47310377-47310427	NHDF-neo	bronchial:	n/a
14	chr14:47310377-47310427	GM12891	blood:	n/a
15	chr14:47310377-47310427	HPAEpiC	pulmonary alveolar:	n/a
16	chr14:47311141-47311191	HEK293	kidney:	embryo
17	chr14:47310377-47310427	GM12892	blood:	n/a
18	chr14:47310377-47310427	BJ	skin:	n/a
19	chr14:47310377-47310427	HCPEpiC	choroid plexus:	n/a
20	chr14:47310377-47310427	SK-N-MC	brain:	n/a
21	chr14:47310377-47310427	NT2-D1	testis:	n/a
22	chr14:47310377-47310427	LNCaP	prostate:	n/a
23	chr14:47311141-47311191	AG10803	skin:	n/a
24	chr14:47310377-47310427	Caco-2	colon:	n/a
25	chr14:47311141-47311191	GM19239	blood:	n/a
26	chr14:47310377-47310427	IMR90	lung:	fetal
27	chr14:47310377-47310427	GM12878	blood:	n/a
28	chr14:47311141-47311191	GM06990	blood:	n/a
29	chr14:47311141-47311191	HCF	heart:	n/a
30	chr14:47311141-47311191	SAEC	small airway:	n/a
31	chr14:47311141-47311191	PANC-1	pancreas:	n/a
32	chr14:47311141-47311191	NB4	blood:	n/a
33	chr14:47310377-47310427	SK-N-SH	brain:	n/a
34	chr14:47311141-47311191	HUVEC	blood vessel:	n/a
35	chr14:47311141-47311191	MCF10A-Er-Src	breast:	n/a
36	chr14:47311141-47311191	ovcar-3	ovarian:	n/a
37	chr14:47311141-47311191	U87	brain:	n/a
38	chr14:47311141-47311191	AoSMC	blood vessel:	n/a
39	chr14:47310377-47310427	A549	lung:	n/a
40	chr14:47310377-47310427	HRCEpiC	kidney:	n/a
41	chr14:47311141-47311191	HMEC	breast:	n/a
42	chr14:47310377-47310427	HRE	kidney:	n/a
43	chr14:47311141-47311191	NHBE	bronchial:	n/a
44	chr14:47311141-47311191	PrEC	prostate:	n/a
45	chr14:47311141-47311191	HL-60	blood:	n/a
46	chr14:47311141-47311191	A549	lung:	n/a
47	chr14:47310377-47310427	NH-A	brain:	n/a
48	chr14:47311141-47311191	MCF-7	breast:	n/a
49	chr14:47310377-47310427	MCF10A-Er-Src	breast:	n/a
50	chr14:47311141-47311191	HPAEpiC	pulmonary alveolar:	n/a

Variant related genes	Relation type
MDGA2	TF binding region
MDGA2	CpG island

Extended variants
information (count: 1572 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1572 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563244057	chr14:47250202-47250203	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs140374423	chr14:47250218-47250219	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576445317	chr14:47250242-47250243	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190940427	chr14:47250249-47250250	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527845380	chr14:47250257-47250258	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs181227008	chr14:47250269-47250270	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs73247028	chr14:47250270-47250271	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538282554	chr14:47250277-47250278	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs185804188	chr14:47250303-47250304	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568375990	chr14:47250321-47250322	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs371613148	chr14:47250330-47250331	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs73247029	chr14:47250345-47250346	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115647491	chr14:47250358-47250359	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs572288789	chr14:47250367-47250368	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145470127	chr14:47250385-47250386	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs557837838	chr14:47250410-47250411	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs137994129	chr14:47250416-47250417	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs75196930	chr14:47250474-47250475	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561504550	chr14:47250516-47250517	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573272416	chr14:47250551-47250552	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs140987895	chr14:47250581-47250582	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531042715	chr14:47272414-47272415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543192809	chr14:47272418-47272419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12587412	chr14:47272423-47272424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs372279931	chr14:47272434-47272435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528586475	chr14:47272441-47272442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546643572	chr14:47272489-47272490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201289579	chr14:47272518-47272519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12587459	chr14:47272604-47272605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187003332	chr14:47272645-47272646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550647358	chr14:47272691-47272692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569111165	chr14:47272699-47272700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143153219	chr14:47272715-47272716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75062257	chr14:47272717-47272718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566640887	chr14:47272790-47272791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146891880	chr14:47272793-47272794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192295589	chr14:47272810-47272811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184079189	chr14:47272815-47272816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139732767	chr14:47272850-47272851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557405049	chr14:47272865-47272866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368179258	chr14:47272887-47272888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1491906	chr14:47272890-47272891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369794278	chr14:47272906-47272907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185037007	chr14:47272926-47272927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574120514	chr14:47272938-47272939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150040430	chr14:47272995-47272996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35630007	chr14:47273018-47273019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73248930	chr14:47273048-47273049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145321730	chr14:47273089-47273090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573060489	chr14:47273121-47273122	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	19907438	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47250200-47250600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:47250200-47250600	ZNF genes & repeats	Liver	Liver
3	chr14:47250200-47250600	Active TSS	Gastric	stomach
4	chr14:47272400-47273400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:47285200-47285400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:47285200-47288400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:47285400-47285800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:47285800-47286200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:47286200-47287600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:47286200-47287600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr14:47286800-47288000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:47286800-47288400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:47286800-47288600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr14:47287000-47288200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:47287600-47287800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr14:47287600-47287800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr14:47287600-47288000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:47287600-47288400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr14:47287600-47288400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:47287800-47288000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:47287800-47288200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr14:47287800-47288600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:47288000-47288400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr14:47288200-47288400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr14:47288200-47288600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr14:47289400-47289600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr14:47289400-47290000	Enhancers	Placenta	Placenta
28	chr14:47289600-47290000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr14:47292800-47294600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:47293200-47293600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:47293600-47294000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:47294000-47294200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:47294200-47298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:47294600-47298600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:47298600-47299000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:47298600-47299000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:47302800-47303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:47305400-47306600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:47307600-47307800	Enhancers	Brain Germinal Matrix	brain
40	chr14:47307800-47309200	Weak transcription	Brain Germinal Matrix	brain
41	chr14:47309200-47310400	Enhancers	Brain Germinal Matrix	brain
42	chr14:47309600-47310000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:47309600-47310000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:47309800-47310000	Enhancers	Brain Anterior Caudate	brain
45	chr14:47309800-47311200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:47309800-47311600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr14:47310000-47310200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr14:47310000-47310200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr14:47310000-47310400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr14:47310000-47310400	Active TSS	Brain Hippocampus Middle	brain

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