Variant report

Variant	nsv901874
Chromosome Location	chr14:47236264-47377202
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	ATF2	chr14:47238352-47238954	GM12878	blood:	n/a	n/a
2	ATF2	chr14:47238421-47238949	GM12878	blood:	n/a	n/a
3	BACH1	chr14:47354745-47355139	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr14:47354811-47355132	K562	blood:	n/a	n/a
5	BATF	chr14:47356425-47356723	GM12878	blood:	n/a	chr14:47356567-47356578
6	BATF	chr14:47238467-47238929	GM12878	blood:	n/a	chr14:47238736-47238744
7	BATF	chr14:47356455-47356637	GM12878	blood:	n/a	chr14:47356567-47356578
8	BATF	chr14:47238445-47238909	GM12878	blood:	n/a	chr14:47238736-47238744
9	BCL11A	chr14:47287397-47287658	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL11A	chr14:47238500-47238903	GM12878	blood:	n/a	chr14:47238829-47238838 chr14:47238615-47238624
11	BCLAF1	chr14:47238310-47239094	GM12878	blood:	n/a	chr14:47238829-47238838 chr14:47238615-47238624
12	BHLHE40	chr14:47243207-47243216	GM12878	blood:	n/a	n/a
13	BHLHE40	chr14:47238505-47238975	GM12878	blood:	n/a	n/a
14	BRCA1	chr14:47303861-47303947	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr14:47288797-47289144	HepG2	liver:	n/a	chr14:47288961-47288972
16	CEBPB	chr14:47362170-47362344	H1-hESC	embryonic stem cell:	n/a	chr14:47362259-47362270
17	CEBPB	chr14:47362102-47362436	HepG2	liver:	n/a	chr14:47362259-47362270
18	CEBPB	chr14:47288787-47289125	A549	lung:	n/a	chr14:47288961-47288972
19	CEBPB	chr14:47366505-47366846	HepG2	liver:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
20	CEBPB	chr14:47280156-47280467	HepG2	liver:	n/a	chr14:47280326-47280337 chr14:47280326-47280339 chr14:47280326-47280339
21	CEBPB	chr14:47366550-47366832	A549	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
22	CEBPB	chr14:47362090-47362394	IMR90	lung:	n/a	chr14:47362259-47362270
23	CEBPB	chr14:47353249-47353482	HepG2	liver:	n/a	n/a
24	CEBPB	chr14:47362166-47362402	A549	lung:	n/a	chr14:47362259-47362270
25	CEBPB	chr14:47303607-47303836	A549	lung:	n/a	chr14:47303681-47303692
26	CEBPB	chr14:47366543-47366799	H1-hESC	embryonic stem cell:	n/a	chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680 chr14:47366671-47366680
27	CEBPB	chr14:47303627-47303827	HepG2	liver:	n/a	chr14:47303681-47303692
28	CEBPB	chr14:47353274-47353450	A549	lung:	n/a	n/a
29	CEBPB	chr14:47237873-47237945	H1-hESC	embryonic stem cell:	n/a	chr14:47237881-47237890 chr14:47237881-47237890 chr14:47237879-47237892 chr14:47237881-47237890
30	CEBPB	chr14:47366501-47366839	IMR90	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
31	CHD1	chr14:47251413-47251417	GM12878	blood:	n/a	n/a
32	CHD1	chr14:47238985-47239024	GM12878	blood:	n/a	n/a
33	CTCF	chr14:47255117-47255134	Medullo	brain:	n/a	n/a
34	CTCF	chr14:47338869-47338905	GM13976	blood:	n/a	n/a
35	CTCF	chr14:47250251-47250282	MCF-7	breast:	n/a	n/a
36	CTCF	chr14:47268380-47268530	GM12865	blood:	n/a	n/a
37	CTCF	chr14:47344468-47344503	Lung_OC	lung:	n/a	n/a
38	CTCF	chr14:47242592-47242640	LNCaP	prostate:	n/a	n/a
39	E2F4	chr14:47325842-47326362	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr14:47269764-47270128	MCF10A-Er-Src	breast:	n/a	n/a
41	EBF1	chr14:47238420-47238890	GM12878	blood:	n/a	n/a
42	EP300	chr14:47238404-47238915	GM12878	blood:	n/a	n/a
43	EP300	chr14:47287375-47287714	H1-hESC	embryonic stem cell:	n/a	n/a
44	EP300	chr14:47238462-47238915	GM12878	blood:	n/a	n/a
45	EP300	chr14:47238520-47239012	GM12878	blood:	n/a	n/a
46	ESR1	chr14:47310585-47310860	ECC-1	luminal epithelium:	n/a	n/a
47	FOS	chr14:47244268-47244422	MCF10A-Er-Src	breast:	n/a	n/a
48	FOXM1	chr14:47238411-47238982	GM12878	blood:	n/a	n/a
49	FOXM1	chr14:47238382-47238982	GM12878	blood:	n/a	n/a
50	GATA1	chr14:47368304-47368699	PBDEFetal	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:47310377-47310427	AG04449	skin:	fetal
2	chr14:47311141-47311191	HRPEpiC	eye:	n/a
3	chr14:47311141-47311191	AG10803	skin:	n/a
4	chr14:47310377-47310427	ovcar-3	ovarian:	n/a
5	chr14:47310377-47310427	HUVEC	blood vessel:	n/a
6	chr14:47310377-47310427	BE2_C	brain:	n/a
7	chr14:47311141-47311191	MCF10A-Er-Src	breast:	n/a
8	chr14:47310377-47310427	GM12891	blood:	n/a
9	chr14:47311141-47311191	ProgFib	skin:	n/a
10	chr14:47311141-47311191	HRCEpiC	kidney:	n/a
11	chr14:47311141-47311191	HAEpiC	amniotic membrane:	n/a
12	chr14:47311141-47311191	SK-N-MC	brain:	n/a
13	chr14:47310377-47310427	NT2-D1	testis:	n/a
14	chr14:47310377-47310427	AG09309	skin:	n/a
15	chr14:47310377-47310427	HAEpiC	amniotic membrane:	n/a
16	chr14:47311141-47311191	IMR90	lung:	fetal
17	chr14:47311141-47311191	SK-N-SH_RA	brain:	n/a
18	chr14:47311141-47311191	H1-hESC	embryonic stem cell:	embryo
19	chr14:47310377-47310427	HL-60	blood:	n/a
20	chr14:47310377-47310427	NHDF-neo	bronchial:	n/a
21	chr14:47310377-47310427	SK-N-MC	brain:	n/a
22	chr14:47311141-47311191	SAEC	small airway:	n/a
23	chr14:47311141-47311191	AG04450	lung:	fetal
24	chr14:47310377-47310427	HPAEpiC	pulmonary alveolar:	n/a
25	chr14:47310377-47310427	PANC-1	pancreas:	n/a
26	chr14:47311141-47311191	HEEpiC	esophagus:	n/a
27	chr14:47311141-47311191	HUVEC	blood vessel:	n/a
28	chr14:47310377-47310427	HCT-116	colon:	n/a
29	chr14:47311141-47311191	HRE	kidney:	n/a
30	chr14:47311141-47311191	GM06990	blood:	n/a
31	chr14:47310377-47310427	Jurkat	blood:	n/a
32	chr14:47310377-47310427	SK-N-SH	brain:	n/a
33	chr14:47310377-47310427	HCPEpiC	choroid plexus:	n/a
34	chr14:47311141-47311191	GM12891	blood:	n/a
35	chr14:47311141-47311191	BJ	skin:	n/a
36	chr14:47311141-47311191	CMK	blood:	n/a
37	chr14:47311141-47311191	HCT-116	colon:	n/a
38	chr14:47311141-47311191	Jurkat	blood:	n/a
39	chr14:47310377-47310427	GM19239	blood:	n/a
40	chr14:47310377-47310427	GM12878	blood:	n/a
41	chr14:47310377-47310427	HEK293	kidney:	embryo
42	chr14:47311141-47311191	HCM	heart:	n/a
43	chr14:47311141-47311191	HIPEpiC	eye:	n/a
44	chr14:47310377-47310427	MCF-7	breast:	n/a
45	chr14:47310377-47310427	HRE	kidney:	n/a
46	chr14:47311141-47311191	HepG2	liver:	n/a
47	chr14:47311141-47311191	Caco-2	colon:	n/a
48	chr14:47311141-47311191	HCPEpiC	choroid plexus:	n/a
49	chr14:47310377-47310427	HCM	heart:	n/a
50	chr14:47311141-47311191	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:47229054..47230571-chr14:47239361..47241042,2	K562	blood:

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

Extended variants
information (count: 1842 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1842 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543607404	chr14:47238202-47238203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113676388	chr14:47238235-47238236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543277474	chr14:47238240-47238241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143340952	chr14:47238250-47238251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556584082	chr14:47238252-47238253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151275416	chr14:47238263-47238264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115768238	chr14:47238283-47238284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140477806	chr14:47238284-47238285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575988597	chr14:47238308-47238309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150406992	chr14:47238311-47238312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138266132	chr14:47238344-47238345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184136948	chr14:47238402-47238403	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143811944	chr14:47238411-47238412	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568259832	chr14:47238455-47238456	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs546692766	chr14:47238495-47238496	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs535933549	chr14:47238556-47238557	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs553911096	chr14:47238562-47238563	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs3007061	chr14:47238606-47238607	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs539421355	chr14:47238644-47238645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76404571	chr14:47238650-47238651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574695058	chr14:47238654-47238655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543688834	chr14:47238695-47238696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188315689	chr14:47238702-47238703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193183151	chr14:47238720-47238721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185442021	chr14:47238734-47238735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527760836	chr14:47238770-47238771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3007062	chr14:47238780-47238781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34175292	chr14:47238799-47238800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78800401	chr14:47238803-47238804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35305312	chr14:47238815-47238816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544565736	chr14:47238861-47238862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534193336	chr14:47238881-47238882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190697598	chr14:47238888-47238889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11847897	chr14:47238925-47238926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550000442	chr14:47238930-47238931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61994560	chr14:47238939-47238940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75211812	chr14:47238940-47238941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547890519	chr14:47238975-47238976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554462500	chr14:47239018-47239019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566005559	chr14:47239056-47239057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112322267	chr14:47239096-47239097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530144662	chr14:47239117-47239118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369790720	chr14:47239123-47239124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539829131	chr14:47239133-47239134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558180673	chr14:47239138-47239139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368159352	chr14:47239169-47239170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537328237	chr14:47239178-47239179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147018755	chr14:47239182-47239183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78891042	chr14:47239232-47239233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540835869	chr14:47239238-47239239	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47238200-47238400	Enhancers	GM12878-XiMat	blood
2	chr14:47238400-47238600	Flanking Active TSS	GM12878-XiMat	blood
3	chr14:47238400-47239000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:47238600-47239400	Enhancers	GM12878-XiMat	blood
5	chr14:47250200-47250600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:47250200-47250600	ZNF genes & repeats	Liver	Liver
7	chr14:47250200-47250600	Active TSS	Gastric	stomach
8	chr14:47272400-47273400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:47285200-47285400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:47285200-47288400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:47285400-47285800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:47285800-47286200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:47286200-47287600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr14:47286200-47287600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr14:47286800-47288000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:47286800-47288400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:47286800-47288600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr14:47287000-47288200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:47287600-47287800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr14:47287600-47287800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr14:47287600-47288000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:47287600-47288400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr14:47287600-47288400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:47287800-47288000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:47287800-47288200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr14:47287800-47288600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr14:47288000-47288400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr14:47288200-47288400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr14:47288200-47288600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr14:47289400-47289600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr14:47289400-47290000	Enhancers	Placenta	Placenta
32	chr14:47289600-47290000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr14:47292800-47294600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:47293200-47293600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:47293600-47294000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:47294000-47294200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:47294200-47298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:47294600-47298600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:47298600-47299000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:47298600-47299000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:47302800-47303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:47305400-47306600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:47307600-47307800	Enhancers	Brain Germinal Matrix	brain
44	chr14:47307800-47309200	Weak transcription	Brain Germinal Matrix	brain
45	chr14:47309200-47310400	Enhancers	Brain Germinal Matrix	brain
46	chr14:47309600-47310000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:47309600-47310000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:47309800-47310000	Enhancers	Brain Anterior Caudate	brain
49	chr14:47309800-47311200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:47309800-47311600	Enhancers	Cortex derived primary cultured neurospheres	brain

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