Variant report

Variant	nsv564761
Chromosome Location	chr14:47314938-47395801
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	CEBPB	chr14:47353274-47353450	A549	lung:	n/a	n/a
6	CEBPB	chr14:47393758-47394044	A549	lung:	n/a	chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882
7	CEBPB	chr14:47366550-47366832	A549	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
8	CEBPB	chr14:47366543-47366799	H1-hESC	embryonic stem cell:	n/a	chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680 chr14:47366671-47366680
9	CEBPB	chr14:47362170-47362344	H1-hESC	embryonic stem cell:	n/a	chr14:47362259-47362270
10	CEBPB	chr14:47393718-47394047	IMR90	lung:	n/a	chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882
11	CEBPB	chr14:47393713-47394028	HepG2	liver:	n/a	chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882
12	CEBPB	chr14:47362102-47362436	HepG2	liver:	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	chr14:47366505-47366846	HepG2	liver:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
15	CEBPB	chr14:47380994-47381232	HepG2	liver:	n/a	n/a
16	CEBPB	chr14:47353249-47353482	HepG2	liver:	n/a	n/a
17	CEBPB	chr14:47362166-47362402	A549	lung:	n/a	chr14:47362259-47362270
18	CEBPB	chr14:47362090-47362394	IMR90	lung:	n/a	chr14:47362259-47362270
19	CEBPB	chr14:47393770-47394030	H1-hESC	embryonic stem cell:	n/a	chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882
20	CTCF	chr14:47389920-47390070	GM12872	blood:	n/a	n/a
21	CTCF	chr14:47389840-47389990	HEK293	kidney:	n/a	n/a
22	CTCF	chr14:47344468-47344503	Lung_OC	lung:	n/a	n/a
23	CTCF	chr14:47385065-47385094	GM20000	blood:	n/a	n/a
24	CTCF	chr14:47389860-47390010	AG10803	skin:	n/a	n/a
25	CTCF	chr14:47393021-47393101	LNCaP	prostate:	n/a	chr14:47393063-47393084
26	CTCF	chr14:47389840-47389990	GM12875	blood:	n/a	n/a
27	CTCF	chr14:47389920-47390070	MCF-7	breast:	n/a	n/a
28	CTCF	chr14:47389880-47390030	HRE	kidney:	n/a	n/a
29	CTCF	chr14:47389780-47389930	BE2_C	brain:	n/a	n/a
30	CTCF	chr14:47389920-47390070	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr14:47389880-47390030	RPTEC	kidney:	n/a	n/a
32	CTCF	chr14:47389840-47389990	BE2_C	brain:	n/a	n/a
33	CTCF	chr14:47389740-47389890	HAc	cerebellar:	n/a	n/a
34	CTCF	chr14:47389820-47389970	GM12874	blood:	n/a	n/a
35	CTCF	chr14:47338869-47338905	GM13976	blood:	n/a	n/a
36	CTCF	chr14:47389800-47389950	GM12878	blood:	n/a	n/a
37	CTCF	chr14:47389940-47390090	RPTEC	kidney:	n/a	n/a
38	CTCF	chr14:47389800-47389950	HCT-116	colon:	n/a	n/a
39	CTCF	chr14:47393059-47393085	HUVEC	blood vessel:	n/a	chr14:47393063-47393084
40	CTCF	chr14:47389880-47390030	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr14:47389939-47389992	GM20000	blood:	n/a	n/a
42	CTCF	chr14:47393020-47393170	BE2_C	brain:	n/a	chr14:47393063-47393084
43	CTCF	chr14:47389900-47390050	HRE	kidney:	n/a	n/a
44	CTCF	chr14:47389860-47390010	GM12871	blood:	n/a	n/a
45	CTCF	chr14:47389740-47389890	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr14:47389980-47390130	HMF	breast:	n/a	n/a
47	CTCF	chr14:47389840-47389990	HL-60	blood:	n/a	n/a
48	CTCF	chr14:47389800-47389950	GM12873	blood:	n/a	n/a
49	CTCF	chr14:47389880-47390030	GM12864	blood:	n/a	n/a
50	CTCF	chr14:47381169-47381171	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
MDGA2	TF binding region

Extended variants
information (count: 1214 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1214 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1388568	chr14:47314938-47314939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531492314	chr14:47314945-47314946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372330940	chr14:47314948-47314949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376904648	chr14:47314971-47314972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534799924	chr14:47314981-47314982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555954358	chr14:47314982-47314983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369177896	chr14:47314983-47314984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201632919	chr14:47315000-47315001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547019863	chr14:47315059-47315060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200640642	chr14:47315071-47315072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184880880	chr14:47315086-47315087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369904957	chr14:47315088-47315089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376777807	chr14:47315120-47315121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371317339	chr14:47315121-47315122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1388567	chr14:47315127-47315128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538544116	chr14:47315135-47315136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190127330	chr14:47315176-47315177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557840242	chr14:47315219-47315220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571488451	chr14:47315243-47315244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536453448	chr14:47315284-47315285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577618138	chr14:47315290-47315291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554455356	chr14:47315326-47315327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572939101	chr14:47315335-47315336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540289899	chr14:47315340-47315341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73250858	chr14:47315391-47315392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560207142	chr14:47315396-47315397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570865461	chr14:47315422-47315423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576445112	chr14:47315432-47315433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573846606	chr14:47315533-47315534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543777435	chr14:47315537-47315538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563642300	chr14:47315582-47315583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531069882	chr14:47315660-47315661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543248094	chr14:47315676-47315677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561322155	chr14:47315687-47315688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150408498	chr14:47315697-47315698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546765190	chr14:47315724-47315725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571738867	chr14:47315761-47315762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35587761	chr14:47315770-47315771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181772252	chr14:47315773-47315774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569212467	chr14:47315782-47315783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536151408	chr14:47315793-47315794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554775281	chr14:47315839-47315840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566533687	chr14:47315897-47315898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533952601	chr14:47315907-47315908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558252646	chr14:47315909-47315910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184551632	chr14:47315923-47315924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2860310	chr14:47315946-47315947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555730084	chr14:47315963-47315964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575940627	chr14:47316033-47316034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542930828	chr14:47316038-47316039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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	17122850	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47312800-47317800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:47317800-47318000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:47319400-47320400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:47319600-47320200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:47328200-47328600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
6	chr14:47337600-47339800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:47339800-47348600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:47348600-47349600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:47349200-47349600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:47349600-47353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:47353400-47355200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:47363800-47366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:47371800-47372400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr14:47371800-47372600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:47372200-47372600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:47372400-47376800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:47372600-47376800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:47376800-47377400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:47376800-47377400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:47376800-47377400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr14:47376800-47377400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr14:47384800-47385200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr14:47391400-47392000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:47391600-47393000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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