Variant report

Variant	esv3511987
Chromosome Location	chr14:21348712-21380210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:101)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:101 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr14:21349520-21349644	K562	blood:	n/a	n/a
2	CEBPB	chr14:21373948-21374221	HepG2	liver:	n/a	chr14:21374057-21374070
3	CEBPB	chr14:21362091-21362409	HepG2	liver:	n/a	chr14:21362250-21362261
4	CEBPB	chr14:21362247-21362271	H1-hESC	embryonic stem cell:	n/a	chr14:21362250-21362261
5	CEBPB	chr14:21362130-21362293	A549	lung:	n/a	chr14:21362250-21362261
6	CEBPB	chr14:21372661-21372946	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr14:21359339-21359538	K562	blood:	n/a	chr14:21359447-21359460
8	CEBPB	chr14:21362168-21362307	Hela-S3	cervix:	n/a	chr14:21362250-21362261
9	CEBPB	chr14:21362201-21362274	K562	blood:	n/a	chr14:21362250-21362261
10	CEBPB	chr14:21362153-21362361	IMR90	lung:	n/a	chr14:21362250-21362261
11	CTCF	chr14:21372620-21372770	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr14:21359369-21359415	GM10266	blood:	n/a	n/a
13	CTCF	chr14:21363089-21363151	Fibrobl	skin:	n/a	n/a
14	CTCF	chr14:21372700-21372850	Caco-2	colon:	n/a	n/a
15	CTCF	chr14:21372521-21372923	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr14:21372521-21372908	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr14:21372720-21372870	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr14:21372620-21372770	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr14:21353349-21353407	GM20000	blood:	n/a	n/a
20	CTCF	chr14:21372600-21372750	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr14:21374340-21374490	GM12866	blood:	n/a	n/a
22	CTCF	chr14:21372680-21372830	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr14:21353562-21353611	Lung_OC	lung:	n/a	n/a
24	CTCF	chr14:21372680-21372830	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr14:21372687-21372787	GM12892	blood:	n/a	n/a
26	CTCF	chr14:21372660-21372810	Caco-2	colon:	n/a	n/a
27	CTCF	chr14:21372660-21372810	BE2_C	brain:	n/a	n/a
28	CTCF	chr14:21372636-21372846	HepG2	liver:	n/a	n/a
29	CTCF	chr14:21372660-21372810	K562	blood:	n/a	n/a
30	CTCF	chr14:21372664-21372819	K562	blood:	n/a	n/a
31	CTCF	chr14:21372640-21372790	HepG2	liver:	n/a	n/a
32	CTCF	chr14:21372640-21372790	HL-60	blood:	n/a	n/a
33	CTCF	chr14:21372689-21372785	GM12878	blood:	n/a	n/a
34	CTCF	chr14:21350469-21350521	LNCaP	prostate:	n/a	n/a
35	CTCF	chr14:21372720-21372870	GM12864	blood:	n/a	n/a
36	CTCF	chr14:21372660-21372810	HepG2	liver:	n/a	n/a
37	CTCF	chr14:21372680-21372830	NB4	blood:	n/a	n/a
38	CTCF	chr14:21378057-21378132	GM13976	blood:	n/a	n/a
39	CTCF	chr14:21372618-21372851	HepG2	liver:	n/a	n/a
40	CTCF	chr14:21372602-21372857	K562	blood:	n/a	n/a
41	CTCF	chr14:21363103-21363184	GM13976	blood:	n/a	n/a
42	CTCF	chr14:21372660-21372810	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr14:21372680-21372830	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr14:21372660-21372810	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr14:21372720-21372870	MCF-7	breast:	n/a	n/a
46	CTCF	chr14:21372680-21372830	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr14:21372660-21372810	HEK293	kidney:	n/a	n/a
48	CTCF	chr14:21372601-21372892	K562	blood:	n/a	n/a
49	CTCF	chr14:21372680-21372830	GM12873	blood:	n/a	n/a
50	CTCF	chr14:21372617-21372879	K562	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21359295-21359345	SK-N-SH_RA	brain:	n/a
2	chr14:21359295-21359345	SK-N-SH_RA	brain:	n/a
3	chr14:21359943-21359993	HCPEpiC	choroid plexus:	n/a
4	chr14:21358233-21358283	Hela-S3	cervix:	n/a
5	chr14:21359295-21359345	GM19239	blood:	n/a
6	chr14:21359737-21359787	NT2-D1	testis:	n/a
7	chr14:21359943-21359993	HRE	kidney:	n/a
8	chr14:21358233-21358283	NH-A	brain:	n/a
9	chr14:21359295-21359345	CMK	blood:	n/a
10	chr14:21359943-21359993	MCF-7	breast:	n/a
11	chr14:21358233-21358283	U87	brain:	n/a
12	chr14:21359737-21359787	HAEpiC	amniotic membrane:	n/a
13	chr14:21359295-21359345	AG09309	skin:	n/a
14	chr14:21358099-21358149	HEK293	kidney:	embryo
15	chr14:21358233-21358283	HepG2	liver:	n/a
16	chr14:21358233-21358283	AG10803	skin:	n/a
17	chr14:21358233-21358283	NT2-D1	testis:	n/a
18	chr14:21359737-21359787	ECC-1	luminal epithelium:	n/a
19	chr14:21358099-21358149	HPAEpiC	pulmonary alveolar:	n/a
20	chr14:21358233-21358283	Caco-2	colon:	n/a
21	chr14:21359737-21359787	K562	blood:	n/a
22	chr14:21358099-21358149	AG09309	skin:	n/a
23	chr14:21358099-21358149	SAEC	small airway:	n/a
24	chr14:21359943-21359993	HepG2	liver:	n/a
25	chr14:21358233-21358283	H1-hESC	embryonic stem cell:	embryo
26	chr14:21359295-21359345	HepG2	liver:	n/a
27	chr14:21359295-21359345	Hepatocyte	liver:	n/a
28	chr14:21358099-21358149	HNPCEpiC	eye:	n/a
29	chr14:21359943-21359993	U87	brain:	n/a
30	chr14:21359943-21359993	IMR90	lung:	fetal
31	chr14:21358233-21358283	NHBE	bronchial:	n/a
32	chr14:21359295-21359345	HPAEpiC	pulmonary alveolar:	n/a
33	chr14:21359737-21359787	HRCEpiC	kidney:	n/a
34	chr14:21359943-21359993	CMK	blood:	n/a
35	chr14:21359295-21359345	Jurkat	blood:	n/a
36	chr14:21359295-21359345	A549	lung:	n/a
37	chr14:21359737-21359787	NB4	blood:	n/a
38	chr14:21359737-21359787	HRPEpiC	eye:	n/a
39	chr14:21358099-21358149	HRPEpiC	eye:	n/a
40	chr14:21359943-21359993	A549	lung:	n/a
41	chr14:21358233-21358283	CMK	blood:	n/a
42	chr14:21359737-21359787	GM12892	blood:	n/a
43	chr14:21359737-21359787	BE2_C	brain:	n/a
44	chr14:21359943-21359993	K562	blood:	n/a
45	chr14:21359295-21359345	HCPEpiC	choroid plexus:	n/a
46	chr14:21359737-21359787	PFSK-1	brain:	n/a
47	chr14:21359295-21359345	T-47D	breast:	n/a
48	chr14:21359737-21359787	HEEpiC	esophagus:	n/a
49	chr14:21358099-21358149	RPTEC	kidney:	n/a
50	chr14:21359737-21359787	IMR90	lung:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDRG2-3	chr14:21366144-21366340	ENSG00000258918

No data

Variant related genes	Relation type
ENSG00000258642	TF binding region
RNASE3	TF binding region
ENSG00000258642	CpG island
RNASE3	CpG island

Extended variants
information (count: 1178 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1178 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142772917	chr14:21348745-21348746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566010099	chr14:21348747-21348748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548850264	chr14:21348770-21348771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs118172636	chr14:21348795-21348796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551816455	chr14:21348814-21348815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571623378	chr14:21348838-21348839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537555723	chr14:21348843-21348844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557233106	chr14:21348851-21348852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150623448	chr14:21348858-21348859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140033681	chr14:21348873-21348874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537690685	chr14:21348875-21348876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112772911	chr14:21348907-21348908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7154102	chr14:21348944-21348945	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573233316	chr14:21348950-21348951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540587494	chr14:21348952-21348953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6571505	chr14:21348968-21348969	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6571506	chr14:21348977-21348978	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191823262	chr14:21349063-21349064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140320940	chr14:21349068-21349069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563288932	chr14:21349083-21349084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529079365	chr14:21349084-21349085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549235845	chr14:21349123-21349124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181922906	chr14:21349129-21349130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186577803	chr14:21349196-21349197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71112531	chr14:21349238-21349239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551441285	chr14:21349281-21349282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377388305	chr14:21349282-21349283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190591573	chr14:21349283-21349284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551050508	chr14:21349319-21349320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144239288	chr14:21349328-21349329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398117957	chr14:21349330-21349331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144118706	chr14:21349344-21349345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372922341	chr14:21349369-21349370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536431808	chr14:21349374-21349375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553164334	chr14:21349377-21349378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573169875	chr14:21349378-21349379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11299601	chr14:21349401-21349402	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs538947881	chr14:21349415-21349416	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149119657	chr14:21349429-21349430	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs577565985	chr14:21349446-21349447	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs554484319	chr14:21349499-21349500	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs143019753	chr14:21349508-21349509	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs573798158	chr14:21349509-21349510	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs1743056	chr14:21349516-21349517	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs68093119	chr14:21349543-21349544	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs559592529	chr14:21349548-21349549	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs1763559	chr14:21349608-21349609	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs116172568	chr14:21349628-21349629	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs565073209	chr14:21349644-21349645	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs565080129	chr14:21349727-21349728	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21346600-21350200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:21346800-21348800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr14:21347600-21350200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:21348000-21348800	Weak transcription	Primary T cells from cord blood	blood
5	chr14:21348000-21350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:21348200-21349400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr14:21348600-21350000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr14:21348800-21349000	Enhancers	Primary T cells from cord blood	blood
9	chr14:21348800-21349200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:21349000-21349800	Weak transcription	Primary T cells from cord blood	blood
11	chr14:21349200-21350200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr14:21349400-21350000	Enhancers	Fetal Thymus	thymus
13	chr14:21349400-21350000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr14:21349800-21350200	Enhancers	Primary T cells from cord blood	blood
15	chr14:21350000-21350200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr14:21350000-21354200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:21350200-21352800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr14:21350200-21352800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:21350200-21354000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:21350200-21354200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:21352800-21353200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:21352800-21353400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr14:21352800-21355600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr14:21353400-21353800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:21353800-21355000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr14:21354000-21354200	Weak transcription	Thymus	Thymus
27	chr14:21354000-21355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:21354200-21354400	Enhancers	Thymus	Thymus
29	chr14:21354200-21354800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr14:21354200-21354800	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:21354200-21355200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:21354400-21357200	Weak transcription	Thymus	Thymus
33	chr14:21354800-21355800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:21355000-21356000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr14:21355200-21356200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:21355600-21356000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr14:21355800-21358200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr14:21356000-21359200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr14:21356000-21362200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr14:21356200-21356800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr14:21356200-21357200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:21356800-21359400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:21357200-21357400	Enhancers	Thymus	Thymus
44	chr14:21358200-21358600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:21358600-21359600	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr14:21359200-21360400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr14:21359400-21359800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr14:21359600-21359800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr14:21359800-21360000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr14:21360000-21360200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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