Variant report

Variant	nsv1035487
Chromosome Location	chr14:47298076-47359042
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	chr14:47356425-47356723	GM12878	blood:	n/a	chr14:47356567-47356578
4	BATF	chr14:47356455-47356637	GM12878	blood:	n/a	chr14:47356567-47356578
5	BRCA1	chr14:47303861-47303947	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr14:47353249-47353482	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:47303607-47303836	A549	lung:	n/a	chr14:47303681-47303692
8	CEBPB	chr14:47303627-47303827	HepG2	liver:	n/a	chr14:47303681-47303692
9	CEBPB	chr14:47353274-47353450	A549	lung:	n/a	n/a
10	CTCF	chr14:47344468-47344503	Lung_OC	lung:	n/a	n/a
11	CTCF	chr14:47338869-47338905	GM13976	blood:	n/a	n/a
12	E2F4	chr14:47325842-47326362	MCF10A-Er-Src	breast:	n/a	n/a
13	ESR1	chr14:47310585-47310860	ECC-1	luminal epithelium:	n/a	n/a
14	IRF3	chr14:47311472-47311648	GM12878	blood:	n/a	n/a
15	IRF4	chr14:47356418-47356642	GM12878	blood:	n/a	n/a
16	JUND	chr14:47354849-47354960	HepG2	liver:	n/a	chr14:47354933-47354944
17	MAFF	chr14:47354770-47355127	HepG2	liver:	n/a	chr14:47354940-47354958
18	MAFF	chr14:47330993-47331333	HepG2	liver:	n/a	chr14:47331153-47331167 chr14:47331154-47331172
19	MAFF	chr14:47331055-47331279	K562	blood:	n/a	chr14:47331153-47331167 chr14:47331154-47331172
20	MAFF	chr14:47354800-47355067	K562	blood:	n/a	chr14:47354940-47354958
21	MAFK	chr14:47354830-47355100	K562	blood:	n/a	chr14:47354941-47354956
22	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
23	MAFK	chr14:47354760-47355129	HepG2	liver:	n/a	chr14:47354941-47354956
24	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
25	MAFK	chr14:47354784-47355109	IMR90	lung:	n/a	chr14:47354941-47354956
26	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
27	MAFK	chr14:47354762-47355130	HepG2	liver:	n/a	chr14:47354941-47354956
28	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
29	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
30	MAFK	chr14:47354738-47355135	H1-hESC	embryonic stem cell:	n/a	chr14:47354941-47354956
31	MAX	chr14:47310598-47310829	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAZ	chr14:47322554-47322692	HepG2	liver:	n/a	n/a
33	MEF2A	chr14:47356416-47356682	GM12878	blood:	n/a	n/a
34	NFIC	chr14:47356388-47356741	GM12878	blood:	n/a	n/a
35	NRF1	chr14:47353544-47353584	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr14:47303141-47303300	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr14:47346704-47346869	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr14:47350997-47351140	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr14:47343762-47343859	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr14:47339150-47339227	GM12878	blood:	n/a	n/a
41	POLR2A	chr14:47337154-47337178	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr14:47315072-47315247	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr14:47324216-47324409	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr14:47332494-47332500	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr14:47304176-47304211	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr14:47315900-47316330	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr14:47309072-47309083	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr14:47325403-47325411	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr14:47309187-47309300	GM12878	blood:	n/a	n/a
50	POLR2A	chr14:47351411-47351551	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:47310377-47310427	PANC-1	pancreas:	n/a
2	chr14:47310377-47310427	PANC-1	pancreas:	n/a
3	chr14:47310377-47310427	BJ	skin:	n/a
4	chr14:47310377-47310427	BE2_C	brain:	n/a
5	chr14:47311141-47311191	HCPEpiC	choroid plexus:	n/a
6	chr14:47310377-47310427	IMR90	lung:	fetal
7	chr14:47311141-47311191	K562	blood:	n/a
8	chr14:47310377-47310427	SK-N-SH_RA	brain:	n/a
9	chr14:47310377-47310427	H1-hESC	embryonic stem cell:	embryo
10	chr14:47311141-47311191	HCT-116	colon:	n/a
11	chr14:47310377-47310427	AG09319	gingival:	n/a
12	chr14:47310377-47310427	AoSMC	blood vessel:	n/a
13	chr14:47310377-47310427	SK-N-SH	brain:	n/a
14	chr14:47311141-47311191	SK-N-SH_RA	brain:	n/a
15	chr14:47311141-47311191	BJ	skin:	n/a
16	chr14:47311141-47311191	NHBE	bronchial:	n/a
17	chr14:47310377-47310427	LNCaP	prostate:	n/a
18	chr14:47311141-47311191	SAEC	small airway:	n/a
19	chr14:47310377-47310427	HUVEC	blood vessel:	n/a
20	chr14:47311141-47311191	SK-N-SH	brain:	n/a
21	chr14:47311141-47311191	SK-N-MC	brain:	n/a
22	chr14:47311141-47311191	LNCaP	prostate:	n/a
23	chr14:47311141-47311191	U87	brain:	n/a
24	chr14:47310377-47310427	GM12892	blood:	n/a
25	chr14:47311141-47311191	MCF10A-Er-Src	breast:	n/a
26	chr14:47311141-47311191	BE2_C	brain:	n/a
27	chr14:47310377-47310427	HMEC	breast:	n/a
28	chr14:47311141-47311191	PrEC	prostate:	n/a
29	chr14:47311141-47311191	IMR90	lung:	fetal
30	chr14:47310377-47310427	HepG2	liver:	n/a
31	chr14:47310377-47310427	ProgFib	skin:	n/a
32	chr14:47310377-47310427	NHBE	bronchial:	n/a
33	chr14:47310377-47310427	PFSK-1	brain:	n/a
34	chr14:47310377-47310427	U87	brain:	n/a
35	chr14:47310377-47310427	NB4	blood:	n/a
36	chr14:47311141-47311191	ProgFib	skin:	n/a
37	chr14:47310377-47310427	SKMC	muscle:	n/a
38	chr14:47311141-47311191	AG04449	skin:	fetal
39	chr14:47310377-47310427	AG09309	skin:	n/a
40	chr14:47310377-47310427	HAEpiC	amniotic membrane:	n/a
41	chr14:47311141-47311191	AG10803	skin:	n/a
42	chr14:47310377-47310427	T-47D	breast:	n/a
43	chr14:47311141-47311191	HRPEpiC	eye:	n/a
44	chr14:47310377-47310427	PrEC	prostate:	n/a
45	chr14:47311141-47311191	HEK293	kidney:	embryo
46	chr14:47311141-47311191	Hepatocyte	liver:	n/a
47	chr14:47310377-47310427	ECC-1	luminal epithelium:	n/a
48	chr14:47311141-47311191	MCF-7	breast:	n/a
49	chr14:47311141-47311191	Hela-S3	cervix:	n/a
50	chr14:47310377-47310427	HCM	heart:	n/a

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

Extended variants
information (count: 1106 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369852127	chr14:47298097-47298098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143352674	chr14:47298098-47298099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373189919	chr14:47298112-47298113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188313907	chr14:47298193-47298194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533099795	chr14:47298197-47298198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191987032	chr14:47298213-47298214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569863340	chr14:47298217-47298218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183279703	chr14:47298250-47298251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201347903	chr14:47298261-47298262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549129028	chr14:47298277-47298278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34688745	chr14:47298299-47298300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397852302	chr14:47298311-47298312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567392073	chr14:47298323-47298324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141517161	chr14:47298396-47298397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34612876	chr14:47298443-47298444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187934449	chr14:47298447-47298448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397852530	chr14:47298450-47298451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150863937	chr14:47298453-47298454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375213426	chr14:47298464-47298465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548192888	chr14:47298490-47298491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35697587	chr14:47298505-47298506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77895101	chr14:47298541-47298542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191246277	chr14:47298582-47298583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553977209	chr14:47298588-47298589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537267700	chr14:47298636-47298637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs207474792	chr14:47298651-47298652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138270733	chr14:47298675-47298676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183770111	chr14:47298750-47298751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368689182	chr14:47298831-47298832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111597349	chr14:47298838-47298839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368770901	chr14:47298858-47298859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559370334	chr14:47298907-47298908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117982496	chr14:47298912-47298913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545322469	chr14:47298965-47298966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568064121	chr14:47302806-47302807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184311003	chr14:47302842-47302843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577504451	chr14:47302852-47302853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544572198	chr14:47302873-47302874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563101173	chr14:47302878-47302879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530298950	chr14:47302884-47302885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542409669	chr14:47302900-47302901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138942879	chr14:47302973-47302974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567304657	chr14:47305401-47305402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10139539	chr14:47305450-47305451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190631133	chr14:47305467-47305468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182856388	chr14:47305469-47305470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10139619	chr14:47305486-47305487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558114310	chr14:47305493-47305494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546436804	chr14:47305542-47305543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530539801	chr14:47305583-47305584	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47294200-47298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:47294600-47298600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:47298600-47299000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:47298600-47299000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:47302800-47303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:47305400-47306600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:47307600-47307800	Enhancers	Brain Germinal Matrix	brain
8	chr14:47307800-47309200	Weak transcription	Brain Germinal Matrix	brain
9	chr14:47309200-47310400	Enhancers	Brain Germinal Matrix	brain
10	chr14:47309600-47310000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:47309600-47310000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:47309800-47310000	Enhancers	Brain Anterior Caudate	brain
13	chr14:47309800-47311200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:47309800-47311600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:47310000-47310200	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr14:47310000-47310200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr14:47310000-47310400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr14:47310000-47310400	Active TSS	Brain Hippocampus Middle	brain
19	chr14:47310000-47310600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:47310000-47310600	Active TSS	Brain Cingulate Gyrus	brain
21	chr14:47310000-47310800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:47310000-47310800	Active TSS	Brain Angular Gyrus	brain
23	chr14:47310000-47311000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr14:47310000-47311200	Active TSS	Brain Substantia Nigra	brain
25	chr14:47310200-47310400	Enhancers	Fetal Brain Female	brain
26	chr14:47310200-47310600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr14:47310200-47310600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr14:47310200-47311200	Active TSS	Brain Anterior Caudate	brain
29	chr14:47310400-47310800	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr14:47310400-47310800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr14:47310400-47310800	Flanking Active TSS	Fetal Brain Female	brain
32	chr14:47310400-47311200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:47310400-47311200	Enhancers	Fetal Brain Male	brain
34	chr14:47310400-47311800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:47310600-47310800	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr14:47310600-47311200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr14:47310600-47312000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:47310800-47311200	Enhancers	Brain Germinal Matrix	brain
39	chr14:47310800-47311200	Enhancers	Brain Hippocampus Middle	brain
40	chr14:47310800-47311200	Enhancers	Fetal Brain Female	brain
41	chr14:47310800-47311400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:47311200-47311400	Enhancers	Brain Anterior Caudate	brain
43	chr14:47311800-47312200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:47312200-47312800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:47312800-47317800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:47317800-47318000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:47319400-47320400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:47319600-47320200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:47328200-47328600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr14:47337600-47339800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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