Variant report

Variant	nsv569303
Chromosome Location	chr15:45222011-45232896
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	chr15:45231991-45232144	K562	blood:	n/a	chr15:45232041-45232054
2	CEBPB	chr15:45230774-45230945	K562	blood:	n/a	n/a
3	CUX1	chr15:45232031-45232212	K562	blood:	n/a	n/a
4	EGR1	chr15:45223262-45223475	K562	blood:	n/a	chr15:45223380-45223389 chr15:45223368-45223381
5	JUN	chr15:45232781-45232903	K562	blood:	n/a	n/a
6	MXI1	chr15:45224979-45225133	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr15:45232243-45232505	K562	blood:	n/a	n/a
8	UBTF	chr15:45232270-45232470	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45003163..45005190-chr15:45225441..45227864,2	K562	blood:

Variant related genes	Relation type
ENSG00000259742	TF binding region
RNU6-1108P	TF binding region
ENSG00000166710	chromatin interactions
ENSG00000229474	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542995309	chr15:45222806-45222807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144735312	chr15:45222810-45222811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184142675	chr15:45222813-45222814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528971678	chr15:45222825-45222826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200283441	chr15:45222898-45222899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542064959	chr15:45222914-45222915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562260888	chr15:45222922-45222923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527997399	chr15:45222937-45222938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548074419	chr15:45222966-45222967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571144117	chr15:45223059-45223060	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs8030847	chr15:45223062-45223063	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144566856	chr15:45223096-45223097	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs547347964	chr15:45223099-45223100	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs147848389	chr15:45223135-45223136	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs535898342	chr15:45223143-45223144	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs61604065	chr15:45223168-45223169	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs56111268	chr15:45223174-45223175	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs58998079	chr15:45223182-45223183	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs55953731	chr15:45223192-45223193	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150350010	chr15:45223215-45223216	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs534726444	chr15:45223225-45223226	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs553377101	chr15:45223250-45223251	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs543052436	chr15:45223264-45223265	Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs556495444	chr15:45223343-45223344	Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs189472364	chr15:45223354-45223355	Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs568863634	chr15:45223436-45223437	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs542676926	chr15:45223446-45223447	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs562158980	chr15:45223463-45223464	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs568973224	chr15:45224980-45224981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs73419323	chr15:45225003-45225004	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148486853	chr15:45225022-45225023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574275984	chr15:45225040-45225041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs111359831	chr15:45225052-45225053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs542920767	chr15:45225095-45225096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs116650735	chr15:45225116-45225117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs73419325	chr15:45225123-45225124	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566752593	chr15:45225479-45225480	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs539661260	chr15:45225564-45225565	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532193945	chr15:45225594-45225595	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs150992281	chr15:45225612-45225613	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs568985685	chr15:45225665-45225666	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs140816745	chr15:45225680-45225681	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557550086	chr15:45225685-45225686	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs567722361	chr15:45225741-45225742	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs58642393	chr15:45225778-45225779	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs61494863	chr15:45225780-45225781	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188013109	chr15:45225784-45225785	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs2457650	chr15:45225789-45225790	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538686533	chr15:45225816-45225817	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs146574146	chr15:45225822-45225823	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45222800-45223000	Enhancers	Liver	Liver
2	chr15:45223000-45223400	Bivalent Enhancer	K562	blood

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