Variant report

Variant	nsv569307
Chromosome Location	chr15:45226968-45235264
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	chr15:45230774-45230945	K562	blood:	n/a	n/a
2	CEBPB	chr15:45231991-45232144	K562	blood:	n/a	chr15:45232041-45232054
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
ENSG00000229474	chromatin interactions
ENSG00000166710	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1720699	chr15:45226968-45226969	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs1720700	chr15:45226993-45226994	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs371385026	chr15:45227031-45227032	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs56853153	chr15:45227041-45227042	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141941690	chr15:45227045-45227046	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs1720701	chr15:45227046-45227047	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs527623222	chr15:45227057-45227058	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568467473	chr15:45227063-45227064	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs534261464	chr15:45227125-45227126	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554022069	chr15:45227142-45227143	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs56020919	chr15:45227211-45227212	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188699055	chr15:45227256-45227257	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs372849654	chr15:45227257-45227258	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192539735	chr15:45227278-45227279	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs556229599	chr15:45227302-45227303	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184976050	chr15:45227303-45227304	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549293158	chr15:45227304-45227305	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189040764	chr15:45227323-45227324	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138729107	chr15:45227327-45227328	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540762392	chr15:45227328-45227329	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530366545	chr15:45227341-45227342	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567519002	chr15:45227374-45227375	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377020223	chr15:45227411-45227412	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191387273	chr15:45227421-45227422	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569462217	chr15:45227446-45227447	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs142735138	chr15:45227461-45227462	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375753475	chr15:45227462-45227463	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368893789	chr15:45227464-45227465	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs548317185	chr15:45227478-45227479	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs184692054	chr15:45227518-45227519	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs147355798	chr15:45227521-45227522	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs189481843	chr15:45227525-45227526	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs570952936	chr15:45227544-45227545	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs531436671	chr15:45227586-45227587	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs9920882	chr15:45227607-45227608	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs79692115	chr15:45227653-45227654	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs529312648	chr15:45227669-45227670	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547209817	chr15:45227714-45227715	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550917588	chr15:45227741-45227742	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs146560027	chr15:45227760-45227761	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs139017161	chr15:45227826-45227827	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs199995443	chr15:45227839-45227840	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs556284347	chr15:45227858-45227859	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs2457653	chr15:45227859-45227860	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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