Variant report

Variant	nsv901887
Chromosome Location	chr14:47581263-47674511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:164)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:164 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr14:47657519-47657543	GM12878	blood:	n/a	n/a
2	CEBPB	chr14:47647084-47647297	A549	lung:	n/a	n/a
3	CEBPB	chr14:47617920-47618180	H1-hESC	embryonic stem cell:	n/a	chr14:47618074-47618085
4	CEBPB	chr14:47649201-47649458	K562	blood:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
5	CEBPB	chr14:47617899-47618250	IMR90	lung:	n/a	chr14:47618074-47618085
6	CEBPB	chr14:47586722-47587018	A549	lung:	n/a	chr14:47586859-47586870
7	CEBPB	chr14:47670622-47670894	IMR90	lung:	n/a	chr14:47670750-47670761
8	CEBPB	chr14:47670575-47670926	HepG2	liver:	n/a	chr14:47670750-47670761
9	CEBPB	chr14:47649141-47649487	IMR90	lung:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
10	CEBPB	chr14:47617889-47618242	HepG2	liver:	n/a	chr14:47618074-47618085
11	CEBPB	chr14:47624242-47624527	A549	lung:	n/a	chr14:47624388-47624399
12	CEBPB	chr14:47649136-47649487	HepG2	liver:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
13	CEBPB	chr14:47649150-47649476	H1-hESC	embryonic stem cell:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
14	CEBPB	chr14:47652631-47652824	HepG2	liver:	n/a	chr14:47652761-47652772
15	CEBPB	chr14:47649134-47649469	A549	lung:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
16	CEBPB	chr14:47649198-47649493	ECC-1	luminal epithelium:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
17	CEBPB	chr14:47617918-47618257	A549	lung:	n/a	chr14:47618074-47618085
18	CEBPB	chr14:47624860-47625066	HepG2	liver:	n/a	n/a
19	CEBPB	chr14:47586722-47586989	HepG2	liver:	n/a	chr14:47586859-47586870
20	CEBPB	chr14:47617931-47618193	K562	blood:	n/a	chr14:47618074-47618085
21	CEBPB	chr14:47649157-47649470	Hela-S3	cervix:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
22	CEBPB	chr14:47624212-47624557	HepG2	liver:	n/a	chr14:47624388-47624399
23	CEBPB	chr14:47617893-47618243	ECC-1	luminal epithelium:	n/a	chr14:47618074-47618085
24	CTCF	chr14:47670180-47670330	HepG2	liver:	n/a	n/a
25	CTCF	chr14:47595012-47595048	GM13977	blood:	n/a	n/a
26	CTCF	chr14:47670200-47670203	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:47649380-47649530	GM12867	blood:	n/a	n/a
28	CTCF	chr14:47657520-47657670	GM12867	blood:	n/a	n/a
29	CTCF	chr14:47670240-47670290	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:47590800-47590950	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr14:47658527-47658561	GM10248	blood:	n/a	n/a
32	CTCF	chr14:47631257-47631311	GM20000	blood:	n/a	n/a
33	CTCF	chr14:47670120-47670270	HEK293	kidney:	n/a	n/a
34	CTCF	chr14:47670160-47670310	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr14:47609740-47609890	GM12869	blood:	n/a	n/a
36	CTCF	chr14:47670188-47670291	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:47648473-47648590	IMR90	lung:	n/a	n/a
38	CTCF	chr14:47591672-47591718	GM13976	blood:	n/a	n/a
39	CTCF	chr14:47597987-47598050	GM10248	blood:	n/a	n/a
40	CTCF	chr14:47629440-47629590	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr14:47670158-47670319	A549	lung:	n/a	n/a
42	E2F4	chr14:47638775-47639014	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr14:47611800-47611834	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr14:47594400-47594477	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr14:47672289-47672438	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr14:47617107-47617181	MCF10A-Er-Src	breast:	n/a	n/a
47	EP300	chr14:47619403-47619950	ECC-1	luminal epithelium:	n/a	n/a
48	EP300	chr14:47619263-47619974	ECC-1	luminal epithelium:	n/a	n/a
49	ESR1	chr14:47619379-47619760	ECC-1	luminal epithelium:	n/a	n/a
50	ESR1	chr14:47619369-47619776	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:47670060-47670110	HepG2	liver:	n/a
2	chr14:47670060-47670110	HRCEpiC	kidney:	n/a
3	chr14:47670060-47670110	LNCaP	prostate:	n/a
4	chr14:47670060-47670110	HAEpiC	amniotic membrane:	n/a
5	chr14:47670060-47670110	RPTEC	kidney:	n/a
6	chr14:47670060-47670110	PANC-1	pancreas:	n/a
7	chr14:47670060-47670110	NHDF-neo	bronchial:	n/a
8	chr14:47670060-47670110	Hela-S3	cervix:	n/a
9	chr14:47670060-47670110	HEK293	kidney:	embryo
10	chr14:47670060-47670110	NH-A	brain:	n/a
11	chr14:47670060-47670110	HEEpiC	esophagus:	n/a
12	chr14:47670060-47670110	HCPEpiC	choroid plexus:	n/a
13	chr14:47670060-47670110	HCT-116	colon:	n/a
14	chr14:47670060-47670110	SAEC	small airway:	n/a
15	chr14:47670060-47670110	HL-60	blood:	n/a
16	chr14:47670060-47670110	NHBE	bronchial:	n/a
17	chr14:47670060-47670110	HUVEC	blood vessel:	n/a
18	chr14:47670060-47670110	CMK	blood:	n/a
19	chr14:47670060-47670110	AG04450	lung:	fetal
20	chr14:47670060-47670110	HNPCEpiC	eye:	n/a
21	chr14:47670060-47670110	HMEC	breast:	n/a
22	chr14:47670060-47670110	HRE	kidney:	n/a
23	chr14:47670060-47670110	T-47D	breast:	n/a
24	chr14:47670060-47670110	BJ	skin:	n/a
25	chr14:47670060-47670110	HPAEpiC	pulmonary alveolar:	n/a
26	chr14:47670060-47670110	PrEC	prostate:	n/a
27	chr14:47670060-47670110	HRPEpiC	eye:	n/a
28	chr14:47670060-47670110	ovcar-3	ovarian:	n/a
29	chr14:47670060-47670110	ProgFib	skin:	n/a
30	chr14:47670060-47670110	PFSK-1	brain:	n/a
31	chr14:47670060-47670110	MCF-7	breast:	n/a
32	chr14:47670060-47670110	A549	lung:	n/a
33	chr14:47670060-47670110	GM12891	blood:	n/a
34	chr14:47670060-47670110	SK-N-SH	brain:	n/a
35	chr14:47670060-47670110	GM06990	blood:	n/a
36	chr14:47670060-47670110	SK-N-MC	brain:	n/a
37	chr14:47670060-47670110	AG04449	skin:	fetal
38	chr14:47670060-47670110	AG10803	skin:	n/a
39	chr14:47670060-47670110	MCF10A-Er-Src	breast:	n/a
40	chr14:47670060-47670110	AoSMC	blood vessel:	n/a
41	chr14:47670060-47670110	GM12878	blood:	n/a
42	chr14:47670060-47670110	H1-hESC	embryonic stem cell:	embryo
43	chr14:47670060-47670110	K562	blood:	n/a
44	chr14:47670060-47670110	NT2-D1	testis:	n/a
45	chr14:47670060-47670110	HCF	heart:	n/a
46	chr14:47670060-47670110	Hepatocyte	liver:	n/a
47	chr14:47670060-47670110	Caco-2	colon:	n/a
48	chr14:47670060-47670110	GM12892	blood:	n/a
49	chr14:47670060-47670110	Jurkat	blood:	n/a
50	chr14:47670060-47670110	SK-N-SH_RA	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:47584419..47587324-chr14:47587496..47590029,2	MCF-7	breast:
2	chr14:47584419..47587324-chr14:47587496..47590029,2	MCF-7	breast:
3	chr12:54734855..54737428-chr14:47592677..47595618,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPL10L-2	chr14:47669778-47670307	NONHSAT036686

No data

Variant related genes	Relation type
RPL13AP2	TF binding region
MDGA2	TF binding region
RPL13AP2	CpG island
MDGA2	CpG island

Extended variants
information (count: 1775 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1775 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12588192	chr14:47581263-47581264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114693139	chr14:47581272-47581273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192250775	chr14:47581296-47581297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113176306	chr14:47581342-47581343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148450230	chr14:47581355-47581356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71448169	chr14:47581356-47581357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370732992	chr14:47581357-47581358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566933683	chr14:47581359-47581360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570115166	chr14:47581419-47581420	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs535899339	chr14:47581446-47581447	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553057087	chr14:47581447-47581448	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs4898562	chr14:47581553-47581554	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540186805	chr14:47581585-47581586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs375385217	chr14:47581607-47581608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs558913177	chr14:47581641-47581642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545164204	chr14:47581649-47581650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558516092	chr14:47581727-47581728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs575598224	chr14:47581788-47581789	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs143223114	chr14:47581812-47581813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs566016753	chr14:47581813-47581814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs148064548	chr14:47581851-47581852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs141764900	chr14:47581855-47581856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113082164	chr14:47581919-47581920	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs146000765	chr14:47581940-47581941	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs79923883	chr14:47581952-47581953	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs77080400	chr14:47581971-47581972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs75125750	chr14:47581991-47581992	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs535023944	chr14:47582001-47582002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs111245339	chr14:47582026-47582027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78918188	chr14:47582035-47582036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs76269747	chr14:47582044-47582045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78868041	chr14:47582058-47582059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs80346713	chr14:47582060-47582061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs78545076	chr14:47582064-47582065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs560618801	chr14:47582079-47582080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs79092976	chr14:47582099-47582100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs75810041	chr14:47582104-47582105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs532526944	chr14:47582105-47582106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs552736137	chr14:47582106-47582107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs562982739	chr14:47582115-47582116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531846623	chr14:47582118-47582119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs548478154	chr14:47582143-47582144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs368689537	chr14:47582152-47582153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs566896376	chr14:47582163-47582164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535863631	chr14:47582174-47582175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs534000146	chr14:47597605-47597606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545472799	chr14:47597607-47597608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61995361	chr14:47597620-47597621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553826818	chr14:47597628-47597629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190736112	chr14:47597633-47597634	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	20967226	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47576800-47582000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:47581400-47582200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr14:47597600-47612200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:47601200-47601400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:47601200-47601600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:47601400-47601800	Enhancers	Brain Germinal Matrix	brain
7	chr14:47601400-47606200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:47601600-47601800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr14:47601600-47606400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:47601800-47606600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:47602800-47603400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:47603400-47606400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:47604800-47605800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:47606000-47607000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:47606200-47607200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:47606400-47607200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:47606400-47607200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:47606400-47607200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr14:47606400-47607400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:47606400-47607400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr14:47606600-47607000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr14:47606600-47607000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:47606800-47607200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr14:47614600-47615400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:47614800-47615400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr14:47615200-47615600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:47615400-47616600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:47616600-47616800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr14:47618200-47619400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr14:47618800-47619200	Enhancers	NH-A	brain
31	chr14:47618800-47620000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:47619200-47619800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:47623600-47624000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:47623600-47625000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:47623800-47624400	Enhancers	Spleen	Spleen
36	chr14:47625000-47629600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:47629600-47629800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:47635800-47637200	Enhancers	Fetal Kidney	kidney
39	chr14:47640000-47641600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr14:47640800-47641400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:47640800-47641600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:47641000-47641400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr14:47641000-47641600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:47651600-47652000	Enhancers	HUVEC	blood vessel
45	chr14:47652000-47655200	Weak transcription	HUVEC	blood vessel
46	chr14:47655200-47656800	Enhancers	HUVEC	blood vessel
47	chr14:47655600-47655800	Enhancers	Brain Germinal Matrix	brain
48	chr14:47655600-47655800	Enhancers	Fetal Kidney	kidney
49	chr14:47655600-47656200	Enhancers	NH-A	brain
50	chr14:47655800-47656200	Enhancers	HUES48 Cell Line	embryonic stem cell

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