Variant report

Variant	nsv901880
Chromosome Location	chr14:47289147-47377202
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	chr14:47356455-47356637	GM12878	blood:	n/a	chr14:47356567-47356578
4	BATF	chr14:47356425-47356723	GM12878	blood:	n/a	chr14:47356567-47356578
5	BRCA1	chr14:47303861-47303947	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr14:47303607-47303836	A549	lung:	n/a	chr14:47303681-47303692
7	CEBPB	chr14:47366505-47366846	HepG2	liver:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
8	CEBPB	chr14:47362166-47362402	A549	lung:	n/a	chr14:47362259-47362270
9	CEBPB	chr14:47366550-47366832	A549	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
10	CEBPB	chr14:47353249-47353482	HepG2	liver:	n/a	n/a
11	CEBPB	chr14:47303627-47303827	HepG2	liver:	n/a	chr14:47303681-47303692
12	CEBPB	chr14:47362090-47362394	IMR90	lung:	n/a	chr14:47362259-47362270
13	CEBPB	chr14:47366501-47366839	IMR90	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
14	CEBPB	chr14:47366543-47366799	H1-hESC	embryonic stem cell:	n/a	chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680 chr14:47366671-47366680
15	CEBPB	chr14:47362102-47362436	HepG2	liver:	n/a	chr14:47362259-47362270
16	CEBPB	chr14:47353274-47353450	A549	lung:	n/a	n/a
17	CEBPB	chr14:47362170-47362344	H1-hESC	embryonic stem cell:	n/a	chr14:47362259-47362270
18	CTCF	chr14:47344468-47344503	Lung_OC	lung:	n/a	n/a
19	CTCF	chr14:47338869-47338905	GM13976	blood:	n/a	n/a
20	E2F4	chr14:47325842-47326362	MCF10A-Er-Src	breast:	n/a	n/a
21	ESR1	chr14:47310585-47310860	ECC-1	luminal epithelium:	n/a	n/a
22	GATA1	chr14:47368304-47368699	PBDEFetal	blood:	n/a	n/a
23	IRF3	chr14:47311472-47311648	GM12878	blood:	n/a	n/a
24	IRF4	chr14:47356418-47356642	GM12878	blood:	n/a	n/a
25	JUND	chr14:47354849-47354960	HepG2	liver:	n/a	chr14:47354933-47354944
26	JUND	chr14:47362156-47362391	HepG2	liver:	n/a	n/a
27	MAFF	chr14:47354770-47355127	HepG2	liver:	n/a	chr14:47354940-47354958
28	MAFF	chr14:47354800-47355067	K562	blood:	n/a	chr14:47354940-47354958
29	MAFF	chr14:47330993-47331333	HepG2	liver:	n/a	chr14:47331153-47331167 chr14:47331154-47331172
30	MAFF	chr14:47331055-47331279	K562	blood:	n/a	chr14:47331153-47331167 chr14:47331154-47331172
31	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
32	MAFK	chr14:47354830-47355100	K562	blood:	n/a	chr14:47354941-47354956
33	MAFK	chr14:47354760-47355129	HepG2	liver:	n/a	chr14:47354941-47354956
34	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
35	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
36	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
37	MAFK	chr14:47354762-47355130	HepG2	liver:	n/a	chr14:47354941-47354956
38	MAFK	chr14:47354784-47355109	IMR90	lung:	n/a	chr14:47354941-47354956
39	MAFK	chr14:47354738-47355135	H1-hESC	embryonic stem cell:	n/a	chr14:47354941-47354956
40	MAFK	chr14:47362016-47362030	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAFK	chr14:47375659-47375708	HepG2	liver:	n/a	n/a
42	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
43	MAX	chr14:47310598-47310829	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAZ	chr14:47322554-47322692	HepG2	liver:	n/a	n/a
45	MEF2A	chr14:47356416-47356682	GM12878	blood:	n/a	n/a
46	NFIC	chr14:47356388-47356741	GM12878	blood:	n/a	n/a
47	NFYA	chr14:47365514-47365693	GM12878	blood:	n/a	n/a
48	NFYB	chr14:47365956-47366225	GM12878	blood:	n/a	n/a
49	NRF1	chr14:47353544-47353584	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr14:47316642-47316823	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:47311141-47311191	BE2_C	brain:	n/a
2	chr14:47311141-47311191	HAEpiC	amniotic membrane:	n/a
3	chr14:47310377-47310427	IMR90	lung:	fetal
4	chr14:47310377-47310427	HEEpiC	esophagus:	n/a
5	chr14:47310377-47310427	HCM	heart:	n/a
6	chr14:47310377-47310427	MCF10A-Er-Src	breast:	n/a
7	chr14:47311141-47311191	K562	blood:	n/a
8	chr14:47311141-47311191	HL-60	blood:	n/a
9	chr14:47310377-47310427	Jurkat	blood:	n/a
10	chr14:47310377-47310427	HUVEC	blood vessel:	n/a
11	chr14:47310377-47310427	H1-hESC	embryonic stem cell:	embryo
12	chr14:47311141-47311191	ECC-1	luminal epithelium:	n/a
13	chr14:47311141-47311191	HRPEpiC	eye:	n/a
14	chr14:47311141-47311191	HNPCEpiC	eye:	n/a
15	chr14:47310377-47310427	NH-A	brain:	n/a
16	chr14:47310377-47310427	NHDF-neo	bronchial:	n/a
17	chr14:47310377-47310427	HCPEpiC	choroid plexus:	n/a
18	chr14:47311141-47311191	PANC-1	pancreas:	n/a
19	chr14:47311141-47311191	Caco-2	colon:	n/a
20	chr14:47311141-47311191	LNCaP	prostate:	n/a
21	chr14:47310377-47310427	HPAEpiC	pulmonary alveolar:	n/a
22	chr14:47311141-47311191	HRCEpiC	kidney:	n/a
23	chr14:47311141-47311191	Hela-S3	cervix:	n/a
24	chr14:47311141-47311191	RPTEC	kidney:	n/a
25	chr14:47311141-47311191	Hepatocyte	liver:	n/a
26	chr14:47310377-47310427	AG10803	skin:	n/a
27	chr14:47310377-47310427	GM12892	blood:	n/a
28	chr14:47310377-47310427	PrEC	prostate:	n/a
29	chr14:47310377-47310427	AG04450	lung:	fetal
30	chr14:47311141-47311191	MCF10A-Er-Src	breast:	n/a
31	chr14:47310377-47310427	MCF-7	breast:	n/a
32	chr14:47311141-47311191	SKMC	muscle:	n/a
33	chr14:47310377-47310427	HIPEpiC	eye:	n/a
34	chr14:47311141-47311191	PFSK-1	brain:	n/a
35	chr14:47310377-47310427	SK-N-SH	brain:	n/a
36	chr14:47310377-47310427	HRPEpiC	eye:	n/a
37	chr14:47311141-47311191	HMEC	breast:	n/a
38	chr14:47310377-47310427	PANC-1	pancreas:	n/a
39	chr14:47310377-47310427	GM19239	blood:	n/a
40	chr14:47310377-47310427	HNPCEpiC	eye:	n/a
41	chr14:47310377-47310427	Hela-S3	cervix:	n/a
42	chr14:47310377-47310427	GM06990	blood:	n/a
43	chr14:47310377-47310427	HL-60	blood:	n/a
44	chr14:47310377-47310427	SK-N-MC	brain:	n/a
45	chr14:47310377-47310427	ECC-1	luminal epithelium:	n/a
46	chr14:47310377-47310427	SKMC	muscle:	n/a
47	chr14:47311141-47311191	AoSMC	blood vessel:	n/a
48	chr14:47310377-47310427	A549	lung:	n/a
49	chr14:47310377-47310427	GM12878	blood:	n/a
50	chr14:47310377-47310427	AoSMC	blood vessel:	n/a

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

Extended variants
information (count: 1620 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1620 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3007128	chr14:47289429-47289430	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535826876	chr14:47289455-47289456	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547441750	chr14:47289458-47289459	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543355710	chr14:47289463-47289464	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539303291	chr14:47289510-47289511	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557543026	chr14:47289536-47289537	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575825559	chr14:47289574-47289575	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536794575	chr14:47289635-47289636	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371051796	chr14:47289644-47289645	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555416116	chr14:47289650-47289651	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111664404	chr14:47289682-47289683	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185541729	chr14:47289696-47289697	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541035391	chr14:47289715-47289716	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559056968	chr14:47289717-47289718	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572778862	chr14:47289719-47289720	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546478606	chr14:47289728-47289729	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12589598	chr14:47289733-47289734	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112299347	chr14:47289754-47289755	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550042221	chr14:47289777-47289778	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145405211	chr14:47289791-47289792	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529342894	chr14:47289823-47289824	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547775104	chr14:47289838-47289839	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565698996	chr14:47289841-47289842	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539391289	chr14:47289869-47289870	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144953459	chr14:47289885-47289886	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569540935	chr14:47289896-47289897	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190413981	chr14:47289901-47289902	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555235659	chr14:47289907-47289908	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573700315	chr14:47289911-47289912	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534373082	chr14:47289918-47289919	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377249649	chr14:47289928-47289929	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192513888	chr14:47289978-47289979	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565033305	chr14:47292867-47292868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547630965	chr14:47292944-47292945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189833943	chr14:47292961-47292962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550695328	chr14:47292981-47292982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568865260	chr14:47292990-47292991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567596666	chr14:47293007-47293008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139790384	chr14:47293008-47293009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548137750	chr14:47293019-47293020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116251082	chr14:47293027-47293028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114934571	chr14:47293041-47293042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111864035	chr14:47293057-47293058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182437847	chr14:47293076-47293077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187066674	chr14:47293178-47293179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557153565	chr14:47293203-47293204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575658973	chr14:47293227-47293228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138131694	chr14:47293267-47293268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542677333	chr14:47293268-47293269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369222940	chr14:47293290-47293291	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47289400-47289600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr14:47289400-47290000	Enhancers	Placenta	Placenta
3	chr14:47289600-47290000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:47292800-47294600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:47293200-47293600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:47293600-47294000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:47294000-47294200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:47294200-47298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:47294600-47298600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:47298600-47299000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:47298600-47299000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:47302800-47303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:47305400-47306600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:47307600-47307800	Enhancers	Brain Germinal Matrix	brain
15	chr14:47307800-47309200	Weak transcription	Brain Germinal Matrix	brain
16	chr14:47309200-47310400	Enhancers	Brain Germinal Matrix	brain
17	chr14:47309600-47310000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:47309600-47310000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:47309800-47310000	Enhancers	Brain Anterior Caudate	brain
20	chr14:47309800-47311200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:47309800-47311600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:47310000-47310200	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr14:47310000-47310200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr14:47310000-47310400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr14:47310000-47310400	Active TSS	Brain Hippocampus Middle	brain
26	chr14:47310000-47310600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:47310000-47310600	Active TSS	Brain Cingulate Gyrus	brain
28	chr14:47310000-47310800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:47310000-47310800	Active TSS	Brain Angular Gyrus	brain
30	chr14:47310000-47311000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr14:47310000-47311200	Active TSS	Brain Substantia Nigra	brain
32	chr14:47310200-47310400	Enhancers	Fetal Brain Female	brain
33	chr14:47310200-47310600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr14:47310200-47310600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr14:47310200-47311200	Active TSS	Brain Anterior Caudate	brain
36	chr14:47310400-47310800	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr14:47310400-47310800	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr14:47310400-47310800	Flanking Active TSS	Fetal Brain Female	brain
39	chr14:47310400-47311200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr14:47310400-47311200	Enhancers	Fetal Brain Male	brain
41	chr14:47310400-47311800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:47310600-47310800	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr14:47310600-47311200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr14:47310600-47312000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:47310800-47311200	Enhancers	Brain Germinal Matrix	brain
46	chr14:47310800-47311200	Enhancers	Brain Hippocampus Middle	brain
47	chr14:47310800-47311200	Enhancers	Fetal Brain Female	brain
48	chr14:47310800-47311400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:47311200-47311400	Enhancers	Brain Anterior Caudate	brain
50	chr14:47311800-47312200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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