Variant report

Variant	nsv9120
Chromosome Location	chr14:20692968-20697355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
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	chr14:20693380-20693530	A549	lung:	n/a	n/a
2	CTCF	chr14:20693378-20693513	K562	blood:	n/a	n/a
3	CTCF	chr14:20693369-20693508	HepG2	liver:	n/a	n/a
4	CTCF	chr14:20693340-20693490	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr14:20693398-20693471	HepG2	liver:	n/a	n/a
6	CTCF	chr14:20693300-20693450	K562	blood:	n/a	n/a
7	CTCF	chr14:20693377-20693449	MCF-7	breast:	n/a	n/a
8	CTCF	chr14:20693280-20693430	HepG2	liver:	n/a	n/a
9	CTCF	chr14:20693327-20693537	K562	blood:	n/a	n/a
10	CTCF	chr14:20693420-20693570	A549	lung:	n/a	n/a
11	CTCF	chr14:20693400-20693550	HepG2	liver:	n/a	n/a
12	FAM48A	chr14:20696009-20696109	GM12878	blood:	n/a	n/a
13	KAP1	chr14:20696020-20696548	K562	blood:	n/a	n/a
14	MXI1	chr14:20695620-20695781	GM12878	blood:	n/a	n/a
15	RAD21	chr14:20693321-20693516	SK-N-SH_RA	brain:	n/a	n/a
16	RAD21	chr14:20693338-20693524	K562	blood:	n/a	n/a
17	ZNF274	chr14:20695691-20695950	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZNF384	chr14:20693263-20693642	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20691139..20693631-chr14:20695657..20698105,2	K562	blood:
2	chr14:20691139..20693631-chr14:20695657..20698105,2	K562	blood:

No data

Variant related genes	Relation type
OR11H7	TF binding region
ENSG00000176219	chromatin interactions
ENSG00000258806	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs45561232	chr14:20692983-20692984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11851950	chr14:20692999-20693000	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187625885	chr14:20693006-20693007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372883280	chr14:20693043-20693044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114956932	chr14:20693069-20693070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571414118	chr14:20693087-20693088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145139590	chr14:20693093-20693094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550318268	chr14:20693094-20693095	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570284606	chr14:20693122-20693123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537368094	chr14:20693136-20693137	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555503962	chr14:20693195-20693196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs74242272	chr14:20693203-20693204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs139022971	chr14:20693213-20693214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553045398	chr14:20693247-20693248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189859189	chr14:20693274-20693275	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs140479058	chr14:20693335-20693336	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs386775271	chr14:20693412-20693413	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs58902983	chr14:20693413-20693414	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77383563	chr14:20693425-20693426	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs561195448	chr14:20693432-20693433	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs182138874	chr14:20693433-20693434	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs67522219	chr14:20693476-20693477	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558435026	chr14:20693489-20693490	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs540474459	chr14:20693534-20693535	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371285756	chr14:20693536-20693537	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369692552	chr14:20693540-20693541	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs564954932	chr14:20693553-20693554	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs80162409	chr14:20693556-20693557	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs12889163	chr14:20693583-20693584	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568777845	chr14:20693585-20693586	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530137136	chr14:20693589-20693590	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs113451944	chr14:20693592-20693593	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12897942	chr14:20693634-20693635	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149588411	chr14:20693639-20693640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs567663711	chr14:20693641-20693642	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs552549394	chr14:20695434-20695435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143817253	chr14:20695439-20695440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538162761	chr14:20695455-20695456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555905413	chr14:20695468-20695469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1959348	chr14:20695472-20695473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576283735	chr14:20695484-20695485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4981839	chr14:20695501-20695502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553441993	chr14:20695525-20695526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4059199	chr14:20695548-20695549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71416923	chr14:20695549-20695550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397691502	chr14:20695554-20695555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571819096	chr14:20695560-20695561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569596238	chr14:20695589-20695590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545437036	chr14:20695623-20695624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs180972626	chr14:20695672-20695673	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	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
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20695400-20695600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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