Variant report

Variant	esv3494311
Chromosome Location	chr15:45154110-45160099
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	chr15:45153846-45154522	K562	blood:	n/a	n/a
2	CBX3	chr15:45154120-45154506	K562	blood:	n/a	n/a
3	CTCF	chr15:45159327-45159368	LNCaP	prostate:	n/a	n/a
4	FOXA1	chr15:45158232-45158520	HepG2	liver:	n/a	n/a
5	KAP1	chr15:45154008-45154453	K562	blood:	n/a	n/a
6	KAT2A	chr15:45159929-45160130	GM12878	blood:	n/a	n/a
7	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
8	PAX5	chr15:45156942-45157275	GM12878	blood:	n/a	n/a
9	PAX5	chr15:45157053-45157259	GM12878	blood:	n/a	n/a
10	PAX5	chr15:45157002-45157344	GM12878	blood:	n/a	n/a
11	PAX5	chr15:45156892-45157493	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:45153597-45154338	GM12892	blood:	n/a	n/a
13	POLR2A	chr15:45153578-45154283	GM12892	blood:	n/a	n/a
14	POLR2A	chr15:45153414-45154133	GM12892	blood:	n/a	n/a
15	SRF	chr15:45155180-45155498	ECC-1	luminal epithelium:	n/a	n/a
16	TAL1	chr15:45153837-45154173	K562	blood:	n/a	n/a
17	YY1	chr15:45153975-45154114	K562	blood:	n/a	chr15:45154034-45154043 chr15:45154037-45154046
18	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: 89 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199893121	chr15:45154117-45154118	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs542715948	chr15:45154120-45154121	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs188919181	chr15:45154168-45154169	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs80266458	chr15:45154177-45154178	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545201982	chr15:45154179-45154180	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565211852	chr15:45154210-45154211	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs530789896	chr15:45154241-45154242	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370294740	chr15:45154243-45154244	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs60429745	chr15:45154315-45154316	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs574374565	chr15:45154362-45154363	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs529802768	chr15:45154406-45154407	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546428062	chr15:45154432-45154433	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs193069177	chr15:45154484-45154485	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs35316829	chr15:45154493-45154494	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs533601049	chr15:45154495-45154496	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs528697069	chr15:45154506-45154507	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376066335	chr15:45154562-45154563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536379438	chr15:45154586-45154587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56823092	chr15:45154610-45154611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111898261	chr15:45154628-45154629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377086514	chr15:45154652-45154653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557335225	chr15:45154662-45154663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567594204	chr15:45154691-45154692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113932814	chr15:45154692-45154693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2084832	chr15:45154696-45154697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs188235328	chr15:45154732-45154733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553345888	chr15:45154760-45154761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80233016	chr15:45154789-45154790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570224907	chr15:45154914-45154915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192570046	chr15:45154927-45154928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544134303	chr15:45154928-45154929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115741850	chr15:45154946-45154947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150029613	chr15:45155097-45155098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574379829	chr15:45155132-45155133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11630622	chr15:45155145-45155146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559833121	chr15:45155197-45155198	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112781363	chr15:45155198-45155199	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs376917857	chr15:45155211-45155212	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs532051262	chr15:45155231-45155232	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs140389563	chr15:45155300-45155301	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs184006003	chr15:45155316-45155317	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs372154769	chr15:45155326-45155327	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs551036850	chr15:45155344-45155345	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs78277003	chr15:45155445-45155446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs536284059	chr15:45155480-45155481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs56044064	chr15:45155490-45155491	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs145039145	chr15:45156918-45156919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs377366949	chr15:45156986-45156987	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs370347663	chr15:45157042-45157043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs374043258	chr15:45157078-45157079	Inactive region	TF binding region	1 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:5 , 50 per page) page: 1

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

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