Variant report

Variant	nsv569305
Chromosome Location	chr15:45225920-45235264
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	JUN	chr15:45232781-45232903	K562	blood:	n/a	n/a
5	RCOR1	chr15:45232243-45232505	K562	blood:	n/a	n/a
6	UBTF	chr15:45232270-45232470	K562	blood:	n/a	n/a
7	ZNF384	chr15:45234982-45235243	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
ENSG00000166710	chromatin interactions
ENSG00000229474	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2457651	chr15:45225920-45225921	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs3959610	chr15:45225923-45225924	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs72722041	chr15:45225928-45225929	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2457652	chr15:45225966-45225967	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs144989932	chr15:45225984-45225985	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531449115	chr15:45226041-45226042	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs548012630	chr15:45226070-45226071	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568124938	chr15:45226135-45226136	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536491204	chr15:45226181-45226182	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376643317	chr15:45226183-45226184	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546780126	chr15:45226231-45226232	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192154506	chr15:45226303-45226304	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543765281	chr15:45226364-45226365	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558544468	chr15:45226398-45226399	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575584335	chr15:45226443-45226444	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369250537	chr15:45226477-45226478	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs538218641	chr15:45226565-45226566	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370360371	chr15:45226569-45226570	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562459412	chr15:45226605-45226606	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs149016100	chr15:45226615-45226616	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373389657	chr15:45226641-45226642	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs143806897	chr15:45226718-45226719	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs560345582	chr15:45226724-45226725	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs533020969	chr15:45226728-45226729	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183187781	chr15:45226735-45226736	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569075231	chr15:45226739-45226740	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs79267637	chr15:45226748-45226749	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs80036916	chr15:45226749-45226750	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111689972	chr15:45226754-45226755	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs56218405	chr15:45226769-45226770	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs548960344	chr15:45226771-45226772	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548163448	chr15:45226783-45226784	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs116451380	chr15:45226824-45226825	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527338306	chr15:45226837-45226838	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546792602	chr15:45226846-45226847	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs560862463	chr15:45226852-45226853	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538832177	chr15:45226862-45226863	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs552480859	chr15:45226863-45226864	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs1720699	chr15:45226968-45226969	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs1720700	chr15:45226993-45226994	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs371385026	chr15:45227031-45227032	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs56853153	chr15:45227041-45227042	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs141941690	chr15:45227045-45227046	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs1720701	chr15:45227046-45227047	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs527623222	chr15:45227057-45227058	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs568467473	chr15:45227063-45227064	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs534261464	chr15:45227125-45227126	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs554022069	chr15:45227142-45227143	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs56020919	chr15:45227211-45227212	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs188699055	chr15:45227256-45227257	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:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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