Variant report

Variant	nsv1048992
Chromosome Location	chr14:24488131-24500989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:24489360-24489510	AG10803	skin:	n/a	n/a
2	CTCF	chr14:24489820-24489970	GM12870	blood:	n/a	n/a
3	CTCF	chr14:24489299-24489427	LNCaP	prostate:	n/a	n/a
4	CTCF	chr14:24489360-24489510	HRE	kidney:	n/a	n/a
5	CTCF	chr14:24489380-24489530	GM12864	blood:	n/a	n/a
6	CTCF	chr14:24489340-24489490	Caco-2	colon:	n/a	n/a
7	CTCF	chr14:24489380-24489530	GM12869	blood:	n/a	n/a
8	CTCF	chr14:24489260-24489410	AG09309	skin:	n/a	n/a
9	CTCF	chr14:24489280-24489430	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr14:24489320-24489470	HepG2	liver:	n/a	n/a
11	CTCF	chr14:24489289-24489467	A549	lung:	n/a	n/a
12	CTCF	chr14:24489363-24489490	LNCaP	prostate:	n/a	n/a
13	CTCF	chr14:24489311-24489339	GM10266	blood:	n/a	n/a
14	CTCF	chr14:24489280-24489430	HMF	breast:	n/a	n/a
15	CTCF	chr14:24489140-24489290	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr14:24489320-24489470	GM12873	blood:	n/a	n/a
17	CTCF	chr14:24489280-24489430	AG10803	skin:	n/a	n/a
18	CTCF	chr14:24489280-24489430	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr14:24489260-24489510	NHEK	skin:	n/a	n/a
20	CTCF	chr14:24489400-24489550	MCF-7	breast:	n/a	n/a
21	CTCF	chr14:24489360-24489510	HepG2	liver:	n/a	n/a
22	CTCF	chr14:24489315-24489451	Pancreas_OC	pancreas:	n/a	n/a
23	CTCF	chr14:24489309-24489425	GM12891	blood:	n/a	n/a
24	CTCF	chr14:24489360-24489510	HCT-116	colon:	n/a	n/a
25	CTCF	chr14:24489260-24489410	GM12872	blood:	n/a	n/a
26	CTCF	chr14:24489301-24489452	NHEK	skin:	n/a	n/a
27	CTCF	chr14:24489380-24489530	GM12867	blood:	n/a	n/a
28	CTCF	chr14:24489280-24489430	GM12873	blood:	n/a	n/a
29	CTCF	chr14:24489360-24489510	GM12864	blood:	n/a	n/a
30	CTCF	chr14:24489426-24489429	Medullo	brain:	n/a	n/a
31	CTCF	chr14:24489301-24489468	Fibrobl	skin:	n/a	n/a
32	CTCF	chr14:24489361-24489420	Medullo	brain:	n/a	n/a
33	CTCF	chr14:24489360-24489510	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr14:24489380-24489530	GM12865	blood:	n/a	n/a
35	CTCF	chr14:24489380-24489530	RPTEC	kidney:	n/a	n/a
36	CTCF	chr14:24489276-24489487	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:24489360-24489510	GM12875	blood:	n/a	n/a
38	CTCF	chr14:24489320-24489470	GM12872	blood:	n/a	n/a
39	CTCF	chr14:24489280-24489430	BJ	skin:	n/a	n/a
40	CTCF	chr14:24489341-24489402	GM19240	blood:	n/a	n/a
41	CTCF	chr14:24489360-24489510	HL-60	blood:	n/a	n/a
42	CTCF	chr14:24489280-24489430	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr14:24489262-24489497	MCF-7	breast:	n/a	n/a
44	CTCF	chr14:24489360-24489510	GM12865	blood:	n/a	n/a
45	CTCF	chr14:24489328-24489442	GM12878	blood:	n/a	n/a
46	CTCF	chr14:24489360-24489510	GM12869	blood:	n/a	n/a
47	CTCF	chr14:24489340-24489490	NHDF-neo	bronchial:	n/a	n/a
48	CTCF	chr14:24489345-24489389	GM10248	blood:	n/a	n/a
49	CTCF	chr14:24489400-24489550	GM12871	blood:	n/a	n/a
50	CTCF	chr14:24489278-24489480	Gliobla	brain:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000225766	TF binding region

Extended variants
information (count: 329 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141974497	chr14:24488131-24488132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200853147	chr14:24488143-24488144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201753842	chr14:24488152-24488153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573215906	chr14:24488159-24488160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376698415	chr14:24492831-24492832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528360465	chr14:24492841-24492842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138413900	chr14:24492842-24492843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370291306	chr14:24492852-24492853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143003412	chr14:24492855-24492856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs177948	chr14:24492886-24492887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530321713	chr14:24492902-24492903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564137434	chr14:24492921-24492922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371248699	chr14:24492924-24492925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146088239	chr14:24492948-24492949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180742502	chr14:24492964-24492965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375678543	chr14:24492989-24492990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569670817	chr14:24492999-24493000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529421173	chr14:24493041-24493042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370318818	chr14:24493057-24493058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549324861	chr14:24493059-24493060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369278356	chr14:24493069-24493070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534983348	chr14:24493082-24493083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558473124	chr14:24493084-24493085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373275300	chr14:24493089-24493090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537053051	chr14:24493111-24493112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557048733	chr14:24493129-24493130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149766058	chr14:24493154-24493155	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs368140402	chr14:24493158-24493159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570899505	chr14:24493177-24493178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386775667	chr14:24493206-24493207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202097004	chr14:24493208-24493209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200585454	chr14:24493209-24493210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544968437	chr14:24493212-24493213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564847390	chr14:24493215-24493216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577571180	chr14:24493232-24493233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543436309	chr14:24493256-24493257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563404240	chr14:24493271-24493272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529351026	chr14:24493357-24493358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372173356	chr14:24493371-24493372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549482709	chr14:24493404-24493405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186508548	chr14:24493421-24493422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534628421	chr14:24493448-24493449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528723784	chr14:24493479-24493480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552062236	chr14:24493536-24493537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368824390	chr14:24493614-24493615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144690183	chr14:24493621-24493622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190849440	chr14:24493625-24493626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1957681	chr14:24493675-24493676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550580356	chr14:24493683-24493684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538501037	chr14:24493697-24493698	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21390271	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24483800-24488200	Weak transcription	Dnd41	blood
2	chr14:24492800-24494600	Enhancers	HepG2	liver
3	chr14:24494000-24494600	Enhancers	Liver	Liver
4	chr14:24494400-24495600	Enhancers	Dnd41	blood
5	chr14:24495600-24500000	Weak transcription	Dnd41	blood
6	chr14:24500000-24500400	Enhancers	Dnd41	blood

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