Variant report

Variant	nsv525754
Chromosome Location	chr14:20482471-20501312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:20501199-20501221	ProgFib	skin:	n/a	n/a
2	CTCF	chr14:20496831-20496869	GM12878	blood:	n/a	chr14:20496855-20496862
3	FOS	chr14:20489092-20489292	MCF10A-Er-Src	breast:	n/a	n/a
4	JUND	chr14:20493447-20493619	HepG2	liver:	n/a	n/a
5	KAP1	chr14:20482340-20482670	K562	blood:	n/a	n/a
6	MAFF	chr14:20487664-20487996	HepG2	liver:	n/a	chr14:20487818-20487836
7	MAFF	chr14:20487716-20487921	K562	blood:	n/a	chr14:20487818-20487836
8	MAFK	chr14:20487670-20487979	IMR90	lung:	n/a	chr14:20487814-20487834
9	MAFK	chr14:20487641-20488002	HepG2	liver:	n/a	chr14:20487814-20487834
10	MAFK	chr14:20487697-20487960	K562	blood:	n/a	chr14:20487814-20487834
11	MAFK	chr14:20487675-20487990	HepG2	liver:	n/a	chr14:20487814-20487834
12	MAFK	chr14:20492383-20492478	HepG2	liver:	n/a	n/a
13	MAX	chr14:20499198-20499499	K562	blood:	n/a	chr14:20499400-20499415
14	MYC	chr14:20482638-20482678	MCF-7	breast:	n/a	n/a
15	POLR2A	chr14:20495345-20495412	MCF-7	breast:	n/a	n/a
16	SETDB1	chr14:20482404-20482657	U2OS	brain:	n/a	n/a
17	STAT3	chr14:20487727-20487891	MCF10A-Er-Src	breast:	n/a	n/a
18	USF1	chr14:20499292-20499552	K562	blood:	n/a	chr14:20499404-20499413 chr14:20499404-20499413

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20482899-20482949	GM12878	blood:	n/a
2	chr14:20482899-20482949	Jurkat	blood:	n/a
3	chr14:20482899-20482949	AoSMC	blood vessel:	n/a
4	chr14:20482899-20482949	HEEpiC	esophagus:	n/a
5	chr14:20482899-20482949	AG09309	skin:	n/a
6	chr14:20482899-20482949	GM06990	blood:	n/a
7	chr14:20482899-20482949	HCF	heart:	n/a
8	chr14:20482899-20482949	HUVEC	blood vessel:	n/a
9	chr14:20482899-20482949	SAEC	small airway:	n/a
10	chr14:20482899-20482949	Hepatocyte	liver:	n/a
11	chr14:20482899-20482949	T-47D	breast:	n/a
12	chr14:20482899-20482949	GM12891	blood:	n/a
13	chr14:20482899-20482949	BJ	skin:	n/a
14	chr14:20482899-20482949	A549	lung:	n/a
15	chr14:20482899-20482949	NH-A	brain:	n/a
16	chr14:20482899-20482949	HRE	kidney:	n/a
17	chr14:20482899-20482949	HAEpiC	amniotic membrane:	n/a
18	chr14:20482899-20482949	GM12892	blood:	n/a
19	chr14:20482899-20482949	HCM	heart:	n/a
20	chr14:20482899-20482949	HPAEpiC	pulmonary alveolar:	n/a
21	chr14:20482899-20482949	HRCEpiC	kidney:	n/a
22	chr14:20482899-20482949	AG09319	gingival:	n/a
23	chr14:20482899-20482949	SKMC	muscle:	n/a
24	chr14:20482899-20482949	PrEC	prostate:	n/a
25	chr14:20482899-20482949	HepG2	liver:	n/a
26	chr14:20482899-20482949	HL-60	blood:	n/a
27	chr14:20482899-20482949	SK-N-SH	brain:	n/a
28	chr14:20482899-20482949	AG04449	skin:	fetal
29	chr14:20482899-20482949	LNCaP	prostate:	n/a
30	chr14:20482899-20482949	CMK	blood:	n/a
31	chr14:20482899-20482949	PFSK-1	brain:	n/a
32	chr14:20482899-20482949	U87	brain:	n/a
33	chr14:20482899-20482949	AG10803	skin:	n/a
34	chr14:20482899-20482949	AG04450	lung:	fetal
35	chr14:20482899-20482949	SK-N-SH_RA	brain:	n/a
36	chr14:20482899-20482949	ovcar-3	ovarian:	n/a
37	chr14:20482899-20482949	HEK293	kidney:	embryo
38	chr14:20482899-20482949	RPTEC	kidney:	n/a
39	chr14:20482899-20482949	SK-N-MC	brain:	n/a
40	chr14:20482899-20482949	IMR90	lung:	fetal
41	chr14:20482899-20482949	NB4	blood:	n/a
42	chr14:20482899-20482949	PANC-1	pancreas:	n/a
43	chr14:20482899-20482949	HMEC	breast:	n/a
44	chr14:20482899-20482949	NHBE	bronchial:	n/a
45	chr14:20482899-20482949	MCF-7	breast:	n/a
46	chr14:20482899-20482949	HCPEpiC	choroid plexus:	n/a
47	chr14:20482899-20482949	GM19239	blood:	n/a
48	chr14:20482899-20482949	ECC-1	luminal epithelium:	n/a
49	chr14:20482899-20482949	ProgFib	skin:	n/a
50	chr14:20482899-20482949	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20479309..20481272-chr14:20484820..20486760,2	K562	blood:

No data

Variant related genes	Relation type
OR4K14	TF binding region
ENSG00000265199	TF binding region
OR4K14	CpG island
ENSG00000265199	CpG island

Extended variants
information (count: 268 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539150551	chr14:20482606-20482607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112130140	chr14:20482613-20482614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs372238009	chr14:20482622-20482623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs376853696	chr14:20482624-20482625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs369576157	chr14:20482637-20482638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201416953	chr14:20482655-20482656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs374172388	chr14:20482659-20482660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs186457874	chr14:20482660-20482661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575064126	chr14:20482667-20482668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532165188	chr14:20482668-20482669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138494163	chr14:20482673-20482674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs267603918	chr14:20482687-20482688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191053630	chr14:20482694-20482695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs147797181	chr14:20482704-20482705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547365570	chr14:20482711-20482712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs141271240	chr14:20482732-20482733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs139471333	chr14:20482753-20482754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs150702306	chr14:20482764-20482765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs564561908	chr14:20482770-20482771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs531583013	chr14:20482772-20482773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs536182010	chr14:20482776-20482777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs149838792	chr14:20482791-20482792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376719079	chr14:20482793-20482794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549980035	chr14:20482796-20482797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs143876579	chr14:20482815-20482816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139793752	chr14:20482816-20482817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200226562	chr14:20482835-20482836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs547328684	chr14:20482838-20482839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs373073211	chr14:20482846-20482847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs377371465	chr14:20482879-20482880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200693939	chr14:20482881-20482882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs369237381	chr14:20482891-20482892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs144784636	chr14:20482898-20482899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs373417059	chr14:20482900-20482901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs17308108	chr14:20482919-20482920	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs77403071	chr14:20482945-20482946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs199620022	chr14:20482952-20482953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs374660996	chr14:20482964-20482965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140358609	chr14:20482981-20482982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377562196	chr14:20482983-20482984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570182837	chr14:20482988-20482989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs199691269	chr14:20482990-20482991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369896383	chr14:20482996-20482997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs7157076	chr14:20482998-20482999	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs370671406	chr14:20483009-20483010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374289071	chr14:20483126-20483127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113203960	chr14:20483150-20483151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs375883528	chr14:20483154-20483155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs370487163	chr14:20483164-20483165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs374081484	chr14:20483175-20483176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20482600-20483200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:20485000-20485600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr14:20487800-20488200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr14:20496200-20499200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr14:20496600-20496800	Enhancers	Small Intestine	intestine
6	chr14:20500000-20500400	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links