Variant report

Variant	nsv564762
Chromosome Location	chr14:47334071-47396215
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	chr14:47366543-47366799	H1-hESC	embryonic stem cell:	n/a	chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680 chr14:47366671-47366680
6	CEBPB	chr14:47362170-47362344	H1-hESC	embryonic stem cell:	n/a	chr14:47362259-47362270
7	CEBPB	chr14:47353249-47353482	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:47366501-47366839	IMR90	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
9	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
10	CEBPB	chr14:47362090-47362394	IMR90	lung:	n/a	chr14:47362259-47362270
11	CEBPB	chr14:47366550-47366832	A549	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	chr14:47380994-47381232	HepG2	liver:	n/a	n/a
14	CEBPB	chr14:47362166-47362402	A549	lung:	n/a	chr14:47362259-47362270
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	chr14:47393713-47394028	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
18	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
19	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
20	CTCF	chr14:47393000-47393150	HCPEpiC	choroid plexus:	n/a	chr14:47393063-47393084
21	CTCF	chr14:47393021-47393101	LNCaP	prostate:	n/a	chr14:47393063-47393084
22	CTCF	chr14:47389800-47389950	HCT-116	colon:	n/a	n/a
23	CTCF	chr14:47389800-47389950	GM12878	blood:	n/a	n/a
24	CTCF	chr14:47344468-47344503	Lung_OC	lung:	n/a	n/a
25	CTCF	chr14:47389840-47389990	HEK293	kidney:	n/a	n/a
26	CTCF	chr14:47389860-47390010	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr14:47389680-47389830	GM12864	blood:	n/a	n/a
28	CTCF	chr14:47389740-47389890	HAc	cerebellar:	n/a	n/a
29	CTCF	chr14:47389800-47389950	GM12873	blood:	n/a	n/a
30	CTCF	chr14:47389940-47390090	GM12866	blood:	n/a	n/a
31	CTCF	chr14:47389840-47389990	GM12875	blood:	n/a	n/a
32	CTCF	chr14:47392940-47393090	HRPEpiC	eye:	n/a	chr14:47393063-47393084
33	CTCF	chr14:47393059-47393085	HUVEC	blood vessel:	n/a	chr14:47393063-47393084
34	CTCF	chr14:47389940-47390090	RPTEC	kidney:	n/a	n/a
35	CTCF	chr14:47389820-47389970	GM12874	blood:	n/a	n/a
36	CTCF	chr14:47389780-47389930	BE2_C	brain:	n/a	n/a
37	CTCF	chr14:47381169-47381171	MCF-7	breast:	n/a	n/a
38	CTCF	chr14:47389920-47390070	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr14:47389980-47390130	HMF	breast:	n/a	n/a
40	CTCF	chr14:47389840-47389990	HL-60	blood:	n/a	n/a
41	CTCF	chr14:47385065-47385094	GM20000	blood:	n/a	n/a
42	CTCF	chr14:47389840-47389990	BE2_C	brain:	n/a	n/a
43	CTCF	chr14:47389920-47390070	GM12872	blood:	n/a	n/a
44	CTCF	chr14:47392989-47393116	Medullo	brain:	n/a	chr14:47393063-47393084
45	CTCF	chr14:47389880-47390030	GM12864	blood:	n/a	n/a
46	CTCF	chr14:47389939-47389992	GM20000	blood:	n/a	n/a
47	CTCF	chr14:47393020-47393170	BE2_C	brain:	n/a	chr14:47393063-47393084
48	CTCF	chr14:47338869-47338905	GM13976	blood:	n/a	n/a
49	CTCF	chr14:47389880-47390030	RPTEC	kidney:	n/a	n/a
50	CTCF	chr14:47389740-47389890	HPAF	blood vessel:	n/a	n/a

Variant related genes	Relation type
MDGA2	TF binding region

Extended variants
information (count: 1050 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1050 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149648049	chr14:47337602-47337603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553346599	chr14:47337669-47337670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560192923	chr14:47337684-47337685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144382774	chr14:47337714-47337715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182012924	chr14:47337722-47337723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557526490	chr14:47337723-47337724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575785034	chr14:47337724-47337725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140964445	chr14:47337744-47337745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561254715	chr14:47337803-47337804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1491908	chr14:47337811-47337812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78660758	chr14:47337818-47337819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540524369	chr14:47337838-47337839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565004871	chr14:47337844-47337845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571773970	chr14:47337849-47337850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76838646	chr14:47337883-47337884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185383023	chr14:47337889-47337890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143211473	chr14:47337892-47337893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529732215	chr14:47337961-47337962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74331595	chr14:47337988-47337989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189317624	chr14:47338005-47338006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34909768	chr14:47338023-47338024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574943264	chr14:47338039-47338040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547290205	chr14:47338055-47338056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71418118	chr14:47338072-47338073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571834558	chr14:47338127-47338128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182017629	chr14:47338288-47338289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376797571	chr14:47338306-47338307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1907624	chr14:47338327-47338328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139931393	chr14:47338328-47338329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185028613	chr14:47338335-47338336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189835990	chr14:47338356-47338357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181164540	chr14:47338376-47338377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142809407	chr14:47338402-47338403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373820143	chr14:47338445-47338446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573211470	chr14:47338455-47338456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376566133	chr14:47338465-47338466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375646879	chr14:47338554-47338555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370639117	chr14:47338555-47338556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35619816	chr14:47338564-47338565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565216778	chr14:47338604-47338605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113342401	chr14:47338625-47338626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186613715	chr14:47338633-47338634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532884897	chr14:47338665-47338666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191412081	chr14:47338678-47338679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529792060	chr14:47338689-47338690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183688731	chr14:47338729-47338730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540308338	chr14:47338742-47338743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559960364	chr14:47338748-47338749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368676321	chr14:47338754-47338755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116964676	chr14:47338762-47338763	Enhancers	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:19 , 50 per page) page: 1

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

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