Variant report

Variant	nsv1051860
Chromosome Location	chr14:45303778-45339780
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	CEBPB	chr14:45319836-45320101	IMR90	lung:	n/a	n/a
2	CEBPB	chr14:45308596-45308858	A549	lung:	n/a	chr14:45308721-45308732 chr14:45308719-45308730
3	CEBPB	chr14:45304361-45304445	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr14:45308593-45308878	HepG2	liver:	n/a	chr14:45308721-45308732 chr14:45308719-45308730
5	CTCF	chr14:45315480-45315630	HFF	foreskin:	n/a	chr14:45315609-45315630
6	CTCF	chr14:45315485-45315755	MCF-7	breast:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
7	CTCF	chr14:45323449-45323590	MCF-7	breast:	n/a	n/a
8	CTCF	chr14:45315540-45315690	Caco-2	colon:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
9	CTCF	chr14:45323460-45323610	GM12870	blood:	n/a	n/a
10	CTCF	chr14:45315540-45315690	HMF	breast:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
11	CTCF	chr14:45315560-45315710	AG09319	gingival:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
12	CTCF	chr14:45315580-45315730	RPTEC	kidney:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
13	CTCF	chr14:45323401-45323578	K562	blood:	n/a	n/a
14	CTCF	chr14:45315560-45315710	GM12874	blood:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
15	CTCF	chr14:45315560-45315710	BJ	skin:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
16	CTCF	chr14:45315509-45315750	GM13977	blood:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
17	CTCF	chr14:45315520-45315670	SAEC	small airway:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
18	CTCF	chr14:45315540-45315690	HVMF	connective:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
19	CTCF	chr14:45315560-45315710	BE2_C	brain:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
20	CTCF	chr14:45323419-45323592	HepG2	liver:	n/a	n/a
21	CTCF	chr14:45323493-45323549	GM10266	blood:	n/a	n/a
22	CTCF	chr14:45315560-45315710	NB4	blood:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
23	CTCF	chr14:45315280-45315430	GM12874	blood:	n/a	n/a
24	CTCF	chr14:45315468-45315773	HUVEC	blood vessel:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
25	CTCF	chr14:45315480-45315630	K562	blood:	n/a	chr14:45315609-45315630
26	CTCF	chr14:45323400-45323550	GM12871	blood:	n/a	n/a
27	CTCF	chr14:45315520-45315670	HPAF	blood vessel:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
28	CTCF	chr14:45315560-45315710	GM12875	blood:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
29	CTCF	chr14:45315540-45315690	NHDF-neo	bronchial:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
30	CTCF	chr14:45315560-45315710	GM12868	blood:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
31	CTCF	chr14:45323436-45323605	GM12892	blood:	n/a	n/a
32	CTCF	chr14:45315519-45315738	ProgFib	skin:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
33	CTCF	chr14:45315514-45315753	GM20000	blood:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
34	CTCF	chr14:45315406-45315759	T-47D	breast:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
35	CTCF	chr14:45315540-45315690	GM12872	blood:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
36	CTCF	chr14:45314840-45314990	BJ	skin:	n/a	n/a
37	CTCF	chr14:45315510-45315751	Kidney_OC	kidney:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
38	CTCF	chr14:45315573-45315692	A549	lung:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
39	CTCF	chr14:45315458-45315876	MCF-7	breast:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
40	CTCF	chr14:45315560-45315710	HRPEpiC	eye:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
41	CTCF	chr14:45315580-45315730	A549	lung:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
42	CTCF	chr14:45315508-45315747	GM10266	blood:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
43	CTCF	chr14:45307923-45307956	Lung_OC	lung:	n/a	n/a
44	CTCF	chr14:45323300-45323450	GM12871	blood:	n/a	n/a
45	CTCF	chr14:45315540-45315690	WERI-Rb-1	eye:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
46	CTCF	chr14:45315540-45315690	GM12865	blood:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
47	CTCF	chr14:45315560-45315710	HBMEC	blood vessel:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
48	CTCF	chr14:45315479-45315776	Spleen_OC	spleen:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
49	CTCF	chr14:45315560-45315710	HL-60	blood:	n/a	chr14:45315609-45315630 chr14:45315614-45315632
50	CTCF	chr14:45315540-45315690	GM12801	blood:	n/a	chr14:45315609-45315630 chr14:45315614-45315632

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45126668..45127459-chr14:45315563..45316088,2	MCF-7	breast:
2	chr14:45331974..45334102-chr14:45335344..45337812,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf28-2	chr14:45311363-45311409	l_978_chr14:45283074-45311409_kidney
2	lnc-C14orf28-2	chr14:45311089-45311174	l_978_chr14:45283074-45311409_kidney

Variant related genes	Relation type
ENSG00000259000	TF binding region
ENSG00000259000	chromatin interactions

Extended variants
information (count: 661 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:661 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548525662	chr14:45303801-45303802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577659544	chr14:45303865-45303866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79459984	chr14:45303878-45303879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55739416	chr14:45303905-45303906	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531125636	chr14:45303929-45303930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549525854	chr14:45303947-45303948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561325756	chr14:45304031-45304032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574356412	chr14:45304034-45304035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528181312	chr14:45304042-45304043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35239185	chr14:45304098-45304099	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35765991	chr14:45304185-45304186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554990092	chr14:45304213-45304214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571241826	chr14:45304346-45304347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563054030	chr14:45304409-45304410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148004911	chr14:45304418-45304419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569147568	chr14:45304435-45304436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536161397	chr14:45304446-45304447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs8015940	chr14:45304514-45304515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs577487562	chr14:45304519-45304520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535112872	chr14:45304578-45304579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112609055	chr14:45304636-45304637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546128762	chr14:45304770-45304771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553076108	chr14:45304800-45304801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577599545	chr14:45304804-45304805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544967527	chr14:45304886-45304887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367668405	chr14:45305049-45305050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375536785	chr14:45305076-45305077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575847162	chr14:45305111-45305112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542993928	chr14:45305119-45305120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368923951	chr14:45305120-45305121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147134421	chr14:45305134-45305135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528708428	chr14:45305135-45305136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546703377	chr14:45305159-45305160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72671096	chr14:45305166-45305167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs58626362	chr14:45305223-45305224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550549838	chr14:45305267-45305268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568771662	chr14:45305279-45305280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536536470	chr14:45305334-45305335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548232549	chr14:45305339-45305340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375250766	chr14:45305345-45305346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372032191	chr14:45305352-45305353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140268422	chr14:45305378-45305379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558344774	chr14:45305442-45305443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571378428	chr14:45305447-45305448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35515415	chr14:45305455-45305456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186567954	chr14:45305465-45305466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73343267	chr14:45305467-45305468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575596697	chr14:45305476-45305477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543285434	chr14:45305481-45305482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554998080	chr14:45305486-45305487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Multiple myeloma	17550852	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
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45301600-45305000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:45302200-45304000	Enhancers	NHDF-Ad	bronchial
3	chr14:45302400-45303800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:45302400-45303800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:45302400-45304000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr14:45303000-45303800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr14:45303400-45303800	Enhancers	Fetal Lung	lung
8	chr14:45303400-45303800	Enhancers	NHLF	lung
9	chr14:45303400-45304200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:45303800-45304800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:45303800-45309000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:45304800-45305000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:45305000-45314400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:45309000-45309400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:45309800-45311000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:45311000-45311400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:45314400-45314800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:45314600-45315000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:45314800-45315800	Enhancers	Fetal Heart	heart
20	chr14:45314800-45317400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:45315200-45315600	Enhancers	Brain Angular Gyrus	brain
22	chr14:45315200-45315600	Active TSS	Brain Hippocampus Middle	brain
23	chr14:45315200-45315600	Enhancers	Brain Substantia Nigra	brain
24	chr14:45315200-45315600	Enhancers	Colon Smooth Muscle	Colon
25	chr14:45315200-45315800	Enhancers	Liver	Liver
26	chr14:45315400-45315600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:45315400-45315600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:45315400-45315600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:45315400-45315800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr14:45317400-45317600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:45329400-45330200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:45329600-45330000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:45329600-45330000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr14:45329600-45330200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr14:45329600-45330200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr14:45329600-45330200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:45333000-45333600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:45333400-45334200	Enhancers	Fetal Stomach	stomach
39	chr14:45335600-45335800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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