Variant report

Variant	esv3397687
Chromosome Location	chr15:45153310-45161258
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	CBX3	chr15:45154120-45154506	K562	blood:	n/a	n/a
2	CBX3	chr15:45153846-45154522	K562	blood:	n/a	n/a
3	CTCF	chr15:45159327-45159368	LNCaP	prostate:	n/a	n/a
4	E2F6	chr15:45153891-45154108	K562	blood:	n/a	chr15:45154035-45154045
5	EP300	chr15:45153933-45153964	K562	blood:	n/a	n/a
6	FOXA1	chr15:45158232-45158520	HepG2	liver:	n/a	n/a
7	JUND	chr15:45153833-45154055	K562	blood:	n/a	chr15:45153937-45153949 chr15:45153939-45153947 chr15:45153935-45153946
8	KAP1	chr15:45154008-45154453	K562	blood:	n/a	n/a
9	KAT2A	chr15:45159929-45160130	GM12878	blood:	n/a	n/a
10	MAX	chr15:45153565-45154149	K562	blood:	n/a	chr15:45153749-45153760 chr15:45153752-45153768 chr15:45153750-45153759 chr15:45153749-45153760 chr15:45153751-45153758 chr15:45153749-45153759 chr15:45153750-45153759 chr15:45153991-45154002 chr15:45153748-45153761
11	MAZ	chr15:45153972-45154026	K562	blood:	n/a	chr15:45153991-45154002
12	MYC	chr15:45153464-45153483	HUVEC	blood vessel:	n/a	n/a
13	MYC	chr15:45153430-45153462	HUVEC	blood vessel:	n/a	n/a
14	NR3C1	chr15:45160976-45161379	A549	lung:	n/a	n/a
15	PAX5	chr15:45156892-45157493	GM12878	blood:	n/a	n/a
16	PAX5	chr15:45157053-45157259	GM12878	blood:	n/a	n/a
17	PAX5	chr15:45156942-45157275	GM12878	blood:	n/a	n/a
18	PAX5	chr15:45157002-45157344	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:45153597-45154338	GM12892	blood:	n/a	n/a
20	POLR2A	chr15:45153578-45154283	GM12892	blood:	n/a	n/a
21	POLR2A	chr15:45153414-45154133	GM12892	blood:	n/a	n/a
22	POLR2A	chr15:45153628-45154014	GM12891	blood:	n/a	n/a
23	POLR2A	chr15:45152956-45153540	GM12891	blood:	n/a	n/a
24	POLR2A	chr15:45152959-45153402	GM12891	blood:	n/a	n/a
25	POLR2A	chr15:45150695-45153390	GM12892	blood:	n/a	n/a
26	RCOR1	chr15:45153917-45154036	K562	blood:	n/a	n/a
27	SRF	chr15:45155180-45155498	ECC-1	luminal epithelium:	n/a	n/a
28	TAL1	chr15:45153837-45154173	K562	blood:	n/a	n/a
29	YY1	chr15:45153975-45154114	K562	blood:	n/a	chr15:45154034-45154043 chr15:45154037-45154046
30	ZNF143	chr15:45154271-45154285	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45153661..45154310-chr15:45315073..45315837,2	NB4	blood:

Variant related genes	Relation type
ENSG00000259479	TF binding region
ENSG00000140263	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543552926	chr15:45153345-45153346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185127304	chr15:45153369-45153370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145723355	chr15:45153376-45153377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548890342	chr15:45153382-45153383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12595073	chr15:45153405-45153406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2470907	chr15:45153410-45153411	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376489945	chr15:45153483-45153484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551400092	chr15:45153511-45153512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571221530	chr15:45153514-45153515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142806435	chr15:45153590-45153591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550696577	chr15:45153599-45153600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564218217	chr15:45153613-45153614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567226034	chr15:45153617-45153618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112674995	chr15:45153683-45153684	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536078849	chr15:45153691-45153692	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201551484	chr15:45153745-45153746	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572718816	chr15:45153749-45153750	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534937563	chr15:45153750-45153751	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532047751	chr15:45153774-45153775	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558023565	chr15:45153809-45153810	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs59925024	chr15:45153824-45153825	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543393023	chr15:45153825-45153826	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12595603	chr15:45153835-45153836	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574017041	chr15:45153849-45153850	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542830160	chr15:45153853-45153854	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117020836	chr15:45153861-45153862	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528405474	chr15:45153870-45153871	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545362164	chr15:45153882-45153883	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565175053	chr15:45153883-45153884	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530547781	chr15:45153884-45153885	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550289636	chr15:45153903-45153904	ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11070436	chr15:45154004-45154005	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs529723167	chr15:45154006-45154007	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549554501	chr15:45154007-45154008	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565977243	chr15:45154018-45154019	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189936016	chr15:45154037-45154038	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183267570	chr15:45154043-45154044	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs35854491	chr15:45154062-45154063	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs571594838	chr15:45154075-45154076	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs558069263	chr15:45154088-45154089	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs140691265	chr15:45154089-45154090	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537469934	chr15:45154108-45154109	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557045814	chr15:45154109-45154110	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs199893121	chr15:45154117-45154118	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs542715948	chr15:45154120-45154121	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs188919181	chr15:45154168-45154169	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs80266458	chr15:45154177-45154178	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs545201982	chr15:45154179-45154180	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs565211852	chr15:45154210-45154211	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs530789896	chr15:45154241-45154242	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45152800-45154000	Enhancers	Liver	Liver
2	chr15:45153200-45153800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr15:45153200-45154400	Enhancers	K562	blood
4	chr15:45153800-45154000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr15:45153800-45154400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:45154400-45155200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:45155200-45155400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:45158000-45158600	Enhancers	HepG2	liver

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