Variant report

Variant	nsv901875
Chromosome Location	chr14:47267652-47377202
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	chr14:47354811-47355132	K562	blood:	n/a	n/a
2	BACH1	chr14:47354745-47355139	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr14:47356425-47356723	GM12878	blood:	n/a	chr14:47356567-47356578
4	BATF	chr14:47356455-47356637	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	chr14:47362102-47362436	HepG2	liver:	n/a	chr14:47362259-47362270
8	CEBPB	chr14:47353274-47353450	A549	lung:	n/a	n/a
9	CEBPB	chr14:47366550-47366832	A549	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
10	CEBPB	chr14:47303607-47303836	A549	lung:	n/a	chr14:47303681-47303692
11	CEBPB	chr14:47366501-47366839	IMR90	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
12	CEBPB	chr14:47366505-47366846	HepG2	liver:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
13	CEBPB	chr14:47366543-47366799	H1-hESC	embryonic stem cell:	n/a	chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680 chr14:47366671-47366680
14	CEBPB	chr14:47303627-47303827	HepG2	liver:	n/a	chr14:47303681-47303692
15	CEBPB	chr14:47280156-47280467	HepG2	liver:	n/a	chr14:47280326-47280337 chr14:47280326-47280339 chr14:47280326-47280339
16	CEBPB	chr14:47362170-47362344	H1-hESC	embryonic stem cell:	n/a	chr14:47362259-47362270
17	CEBPB	chr14:47353249-47353482	HepG2	liver:	n/a	n/a
18	CEBPB	chr14:47288787-47289125	A549	lung:	n/a	chr14:47288961-47288972
19	CEBPB	chr14:47362166-47362402	A549	lung:	n/a	chr14:47362259-47362270
20	CEBPB	chr14:47288797-47289144	HepG2	liver:	n/a	chr14:47288961-47288972
21	CEBPB	chr14:47362090-47362394	IMR90	lung:	n/a	chr14:47362259-47362270
22	CTCF	chr14:47338869-47338905	GM13976	blood:	n/a	n/a
23	CTCF	chr14:47268380-47268530	GM12865	blood:	n/a	n/a
24	CTCF	chr14:47344468-47344503	Lung_OC	lung:	n/a	n/a
25	E2F4	chr14:47325842-47326362	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr14:47269764-47270128	MCF10A-Er-Src	breast:	n/a	n/a
27	EP300	chr14:47287375-47287714	H1-hESC	embryonic stem cell:	n/a	n/a
28	ESR1	chr14:47310585-47310860	ECC-1	luminal epithelium:	n/a	n/a
29	GATA1	chr14:47368304-47368699	PBDEFetal	blood:	n/a	n/a
30	IRF3	chr14:47311472-47311648	GM12878	blood:	n/a	n/a
31	IRF4	chr14:47356418-47356642	GM12878	blood:	n/a	n/a
32	JUND	chr14:47354849-47354960	HepG2	liver:	n/a	chr14:47354933-47354944
33	JUND	chr14:47287371-47287664	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr14:47362156-47362391	HepG2	liver:	n/a	n/a
35	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
36	MAFF	chr14:47354800-47355067	K562	blood:	n/a	chr14:47354940-47354958
37	MAFF	chr14:47330993-47331333	HepG2	liver:	n/a	chr14:47331153-47331167 chr14:47331154-47331172
38	MAFF	chr14:47331055-47331279	K562	blood:	n/a	chr14:47331153-47331167 chr14:47331154-47331172
39	MAFF	chr14:47354770-47355127	HepG2	liver:	n/a	chr14:47354940-47354958
40	MAFK	chr14:47354784-47355109	IMR90	lung:	n/a	chr14:47354941-47354956
41	MAFK	chr14:47287862-47288153	HepG2	liver:	n/a	chr14:47287881-47287892 chr14:47288038-47288049 chr14:47288038-47288049 chr14:47287880-47287894 chr14:47287877-47287893 chr14:47288038-47288053
42	MAFK	chr14:47284643-47284973	HepG2	liver:	n/a	chr14:47284810-47284820
43	MAFK	chr14:47284662-47284942	IMR90	lung:	n/a	chr14:47284810-47284820
44	MAFK	chr14:47330973-47331343	HepG2	liver:	n/a	chr14:47331155-47331170 chr14:47331150-47331170 chr14:47331157-47331166 chr14:47331155-47331171 chr14:47331152-47331168 chr14:47331153-47331167
45	MAFK	chr14:47330986-47331326	HepG2	liver:	n/a	chr14:47331155-47331170 chr14:47331150-47331170 chr14:47331157-47331166 chr14:47331155-47331171 chr14:47331152-47331168 chr14:47331153-47331167
46	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
47	MAFK	chr14:47284342-47284348	HepG2	liver:	n/a	n/a
48	MAFK	chr14:47354762-47355130	HepG2	liver:	n/a	chr14:47354941-47354956
49	MAFK	chr14:47354830-47355100	K562	blood:	n/a	chr14:47354941-47354956
50	MAFK	chr14:47331101-47331296	H1-hESC	embryonic stem cell:	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	K562	blood:	n/a
2	chr14:47310377-47310427	Caco-2	colon:	n/a
3	chr14:47311141-47311191	AoSMC	blood vessel:	n/a
4	chr14:47310377-47310427	CMK	blood:	n/a
5	chr14:47310377-47310427	GM12878	blood:	n/a
6	chr14:47310377-47310427	HCM	heart:	n/a
7	chr14:47311141-47311191	HEK293	kidney:	embryo
8	chr14:47310377-47310427	HCT-116	colon:	n/a
9	chr14:47311141-47311191	ProgFib	skin:	n/a
10	chr14:47310377-47310427	GM06990	blood:	n/a
11	chr14:47310377-47310427	Hepatocyte	liver:	n/a
12	chr14:47311141-47311191	A549	lung:	n/a
13	chr14:47311141-47311191	Hepatocyte	liver:	n/a
14	chr14:47310377-47310427	SAEC	small airway:	n/a
15	chr14:47310377-47310427	SK-N-MC	brain:	n/a
16	chr14:47311141-47311191	Hela-S3	cervix:	n/a
17	chr14:47310377-47310427	NH-A	brain:	n/a
18	chr14:47311141-47311191	PrEC	prostate:	n/a
19	chr14:47310377-47310427	NHBE	bronchial:	n/a
20	chr14:47310377-47310427	BJ	skin:	n/a
21	chr14:47311141-47311191	HCM	heart:	n/a
22	chr14:47311141-47311191	Caco-2	colon:	n/a
23	chr14:47310377-47310427	AG04449	skin:	fetal
24	chr14:47310377-47310427	LNCaP	prostate:	n/a
25	chr14:47310377-47310427	PFSK-1	brain:	n/a
26	chr14:47311141-47311191	HIPEpiC	eye:	n/a
27	chr14:47310377-47310427	H1-hESC	embryonic stem cell:	embryo
28	chr14:47311141-47311191	BJ	skin:	n/a
29	chr14:47310377-47310427	Hela-S3	cervix:	n/a
30	chr14:47311141-47311191	CMK	blood:	n/a
31	chr14:47310377-47310427	SK-N-SH_RA	brain:	n/a
32	chr14:47311141-47311191	U87	brain:	n/a
33	chr14:47310377-47310427	HL-60	blood:	n/a
34	chr14:47310377-47310427	MCF-7	breast:	n/a
35	chr14:47310377-47310427	HRPEpiC	eye:	n/a
36	chr14:47310377-47310427	BE2_C	brain:	n/a
37	chr14:47310377-47310427	AoSMC	blood vessel:	n/a
38	chr14:47311141-47311191	GM12892	blood:	n/a
39	chr14:47311141-47311191	GM12891	blood:	n/a
40	chr14:47311141-47311191	AG04450	lung:	fetal
41	chr14:47311141-47311191	PANC-1	pancreas:	n/a
42	chr14:47311141-47311191	SKMC	muscle:	n/a
43	chr14:47311141-47311191	NB4	blood:	n/a
44	chr14:47310377-47310427	ECC-1	luminal epithelium:	n/a
45	chr14:47311141-47311191	AG09309	skin:	n/a
46	chr14:47310377-47310427	HCPEpiC	choroid plexus:	n/a
47	chr14:47310377-47310427	K562	blood:	n/a
48	chr14:47310377-47310427	T-47D	breast:	n/a
49	chr14:47310377-47310427	GM19239	blood:	n/a
50	chr14:47310377-47310427	HNPCEpiC	eye:	n/a

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

Extended variants
information (count: 1767 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1767 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531042715	chr14:47272414-47272415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543192809	chr14:47272418-47272419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12587412	chr14:47272423-47272424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs372279931	chr14:47272434-47272435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528586475	chr14:47272441-47272442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546643572	chr14:47272489-47272490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201289579	chr14:47272518-47272519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12587459	chr14:47272604-47272605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187003332	chr14:47272645-47272646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550647358	chr14:47272691-47272692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569111165	chr14:47272699-47272700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143153219	chr14:47272715-47272716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75062257	chr14:47272717-47272718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566640887	chr14:47272790-47272791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146891880	chr14:47272793-47272794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192295589	chr14:47272810-47272811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184079189	chr14:47272815-47272816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139732767	chr14:47272850-47272851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557405049	chr14:47272865-47272866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368179258	chr14:47272887-47272888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1491906	chr14:47272890-47272891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369794278	chr14:47272906-47272907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185037007	chr14:47272926-47272927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574120514	chr14:47272938-47272939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150040430	chr14:47272995-47272996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35630007	chr14:47273018-47273019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73248930	chr14:47273048-47273049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145321730	chr14:47273089-47273090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573060489	chr14:47273121-47273122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540370040	chr14:47273146-47273147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556476646	chr14:47273166-47273167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532428597	chr14:47273232-47273233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550936020	chr14:47273328-47273329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562705475	chr14:47273341-47273342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145248017	chr14:47273350-47273351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548454911	chr14:47273358-47273359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143309197	chr14:47273381-47273382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72676628	chr14:47285214-47285215	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571468280	chr14:47285266-47285267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180908136	chr14:47285310-47285311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574831773	chr14:47285344-47285345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375927050	chr14:47285351-47285352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149422910	chr14:47285420-47285421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186328371	chr14:47285433-47285434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569435425	chr14:47285438-47285439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370587974	chr14:47285465-47285466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190245582	chr14:47285475-47285476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181427101	chr14:47285517-47285518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373694856	chr14:47285604-47285605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76327256	chr14:47285640-47285641	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47272400-47273400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:47285200-47285400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:47285200-47288400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr14:47285400-47285800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:47285800-47286200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:47286200-47287600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:47286200-47287600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr14:47286800-47288000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:47286800-47288400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:47286800-47288600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr14:47287000-47288200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:47287600-47287800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr14:47287600-47287800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr14:47287600-47288000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:47287600-47288400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr14:47287600-47288400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:47287800-47288000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:47287800-47288200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr14:47287800-47288600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:47288000-47288400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr14:47288200-47288400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr14:47288200-47288600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr14:47289400-47289600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr14:47289400-47290000	Enhancers	Placenta	Placenta
25	chr14:47289600-47290000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr14:47292800-47294600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:47293200-47293600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:47293600-47294000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:47294000-47294200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:47294200-47298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:47294600-47298600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:47298600-47299000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:47298600-47299000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:47302800-47303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:47305400-47306600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:47307600-47307800	Enhancers	Brain Germinal Matrix	brain
37	chr14:47307800-47309200	Weak transcription	Brain Germinal Matrix	brain
38	chr14:47309200-47310400	Enhancers	Brain Germinal Matrix	brain
39	chr14:47309600-47310000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:47309600-47310000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:47309800-47310000	Enhancers	Brain Anterior Caudate	brain
42	chr14:47309800-47311200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:47309800-47311600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr14:47310000-47310200	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr14:47310000-47310200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr14:47310000-47310400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr14:47310000-47310400	Active TSS	Brain Hippocampus Middle	brain
48	chr14:47310000-47310600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:47310000-47310600	Active TSS	Brain Cingulate Gyrus	brain
50	chr14:47310000-47310800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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