Variant report

Variant	nsv569310
Chromosome Location	chr15:45234946-45259425
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	chr15:45248617-45248975	K562	blood:	n/a	n/a
2	CHD2	chr15:45243973-45244102	K562	blood:	n/a	n/a
3	CTCF	chr15:45248720-45248870	GM12869	blood:	n/a	n/a
4	CTCF	chr15:45240562-45240707	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr15:45240948-45240984	ProgFib	skin:	n/a	n/a
6	CTCF	chr15:45240737-45240753	GM13977	blood:	n/a	n/a
7	CTCF	chr15:45247226-45247264	GM10248	blood:	n/a	n/a
8	E2F6	chr15:45248619-45249124	H1-hESC	embryonic stem cell:	n/a	n/a
9	EP300	chr15:45248553-45248874	K562	blood:	n/a	n/a
10	GATA1	chr15:45248599-45248865	PBDE	blood:	n/a	chr15:45248779-45248786 chr15:45248702-45248718 chr15:45248780-45248797 chr15:45248752-45248759 chr15:45248779-45248788 chr15:45248778-45248788
11	MAFK	chr15:45245381-45245457	HepG2	liver:	n/a	n/a
12	NFYA	chr15:45248613-45248975	K562	blood:	n/a	chr15:45248851-45248864 chr15:45248822-45248832 chr15:45248851-45248866 chr15:45248851-45248865 chr15:45248851-45248866 chr15:45248853-45248863
13	NFYB	chr15:45248647-45249153	K562	blood:	n/a	chr15:45248851-45248864 chr15:45248822-45248832 chr15:45248851-45248866 chr15:45248851-45248865 chr15:45248851-45248866 chr15:45248853-45248863
14	POLR2A	chr15:45240856-45240983	Gliobla	brain:	n/a	n/a
15	POLR2A	chr15:45239701-45239836	H1-hESC	embryonic stem cell:	n/a	n/a
16	SPI1	chr15:45243948-45244146	K562	blood:	n/a	n/a
17	STAT3	chr15:45242537-45242775	MCF10A-Er-Src	breast:	n/a	n/a
18	TAL1	chr15:45248607-45248994	K562	blood:	n/a	chr15:45248779-45248797
19	YY1	chr15:45248748-45249017	H1-hESC	embryonic stem cell:	n/a	chr15:45248910-45248922
20	YY1	chr15:45248755-45248958	K562	blood:	n/a	chr15:45248910-45248922
21	ZBTB33	chr15:45243866-45244183	K562	blood:	n/a	n/a
22	ZNF274	chr15:45246153-45246537	K562	blood:	n/a	n/a
23	ZNF384	chr15:45254340-45254496	K562	blood:	n/a	n/a
24	ZNF384	chr15:45234982-45235243	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45248463-45248513	HUVEC	blood vessel:	n/a
2	chr15:45248463-45248513	HUVEC	blood vessel:	n/a
3	chr15:45248463-45248513	SK-N-SH	brain:	n/a
4	chr15:45247870-45247920	BJ	skin:	n/a
5	chr15:45248463-45248513	SKMC	muscle:	n/a
6	chr15:45247870-45247920	Caco-2	colon:	n/a
7	chr15:45247870-45247920	HMEC	breast:	n/a
8	chr15:45248806-45248856	HRCEpiC	kidney:	n/a
9	chr15:45248932-45248982	MCF-7	breast:	n/a
10	chr15:45248878-45248928	Hela-S3	cervix:	n/a
11	chr15:45248744-45248794	HAEpiC	amniotic membrane:	n/a
12	chr15:45247870-45247920	HRPEpiC	eye:	n/a
13	chr15:45248806-45248856	AG04449	skin:	fetal
14	chr15:45248744-45248794	HPAEpiC	pulmonary alveolar:	n/a
15	chr15:45248744-45248794	BE2_C	brain:	n/a
16	chr15:45248932-45248982	H1-hESC	embryonic stem cell:	embryo
17	chr15:45248744-45248794	AG04450	lung:	fetal
18	chr15:45247870-45247920	AG04450	lung:	fetal
19	chr15:45248932-45248982	AG09319	gingival:	n/a
20	chr15:45248463-45248513	GM19239	blood:	n/a
21	chr15:45248463-45248513	BJ	skin:	n/a
22	chr15:45248878-45248928	NT2-D1	testis:	n/a
23	chr15:45248806-45248856	SK-N-SH_RA	brain:	n/a
24	chr15:45247870-45247920	NH-A	brain:	n/a
25	chr15:45248806-45248856	PFSK-1	brain:	n/a
26	chr15:45247870-45247920	MCF10A-Er-Src	breast:	n/a
27	chr15:45248744-45248794	GM06990	blood:	n/a
28	chr15:45248878-45248928	U87	brain:	n/a
29	chr15:45248932-45248982	HepG2	liver:	n/a
30	chr15:45248806-45248856	NT2-D1	testis:	n/a
31	chr15:45248806-45248856	GM12892	blood:	n/a
32	chr15:45248806-45248856	HRE	kidney:	n/a
33	chr15:45248878-45248928	BE2_C	brain:	n/a
34	chr15:45248878-45248928	AG09319	gingival:	n/a
35	chr15:45248932-45248982	ECC-1	luminal epithelium:	n/a
36	chr15:45247870-45247920	NT2-D1	testis:	n/a
37	chr15:45247870-45247920	HL-60	blood:	n/a
38	chr15:45248463-45248513	HEK293	kidney:	embryo
39	chr15:45247870-45247920	HAEpiC	amniotic membrane:	n/a
40	chr15:45248806-45248856	K562	blood:	n/a
41	chr15:45248463-45248513	LNCaP	prostate:	n/a
42	chr15:45248463-45248513	NH-A	brain:	n/a
43	chr15:45248932-45248982	GM06990	blood:	n/a
44	chr15:45248878-45248928	HRCEpiC	kidney:	n/a
45	chr15:45248878-45248928	HRPEpiC	eye:	n/a
46	chr15:45248806-45248856	AG10803	skin:	n/a
47	chr15:45247870-45247920	IMR90	lung:	fetal
48	chr15:45247870-45247920	AG09319	gingival:	n/a
49	chr15:45247870-45247920	A549	lung:	n/a
50	chr15:45248806-45248856	U87	brain:	n/a

Variant related genes	Relation type
C15orf43	TF binding region
RNU6-1332P	TF binding region
C15orf43	CpG island
RNU6-1332P	CpG island

Extended variants
information (count: 119 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148504046	chr15:45242428-45242429	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs568288048	chr15:45242433-45242434	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542569648	chr15:45242449-45242450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561446800	chr15:45242464-45242465	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536287094	chr15:45242512-45242513	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs11629994	chr15:45242517-45242518	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577025536	chr15:45242568-45242569	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs539424330	chr15:45242583-45242584	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs555715311	chr15:45242596-45242597	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs190558968	chr15:45242612-45242613	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs368799028	chr15:45242632-45242633	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182473617	chr15:45242639-45242640	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs561425074	chr15:45242677-45242678	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs67766362	chr15:45242708-45242709	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377692740	chr15:45242717-45242718	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs377597387	chr15:45242758-45242759	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs66725558	chr15:45242779-45242780	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532880313	chr15:45242791-45242792	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs549714180	chr15:45243909-45243910	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569607151	chr15:45243918-45243919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs187407898	chr15:45243934-45243935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535082941	chr15:45243949-45243950	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs377298715	chr15:45244009-45244010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs554913011	chr15:45244042-45244043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs192302125	chr15:45244043-45244044	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs112724245	chr15:45244078-45244079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370904296	chr15:45244151-45244152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs114886738	chr15:45244173-45244174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs569761522	chr15:45244182-45244183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs146430629	chr15:45245383-45245384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs112981830	chr15:45246234-45246235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs12591229	chr15:45246237-45246238	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs577597554	chr15:45246240-45246241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs183015947	chr15:45246312-45246313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs557029668	chr15:45246344-45246345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs573541082	chr15:45246374-45246375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs560111675	chr15:45246381-45246382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs544467366	chr15:45246409-45246410	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs140354198	chr15:45246454-45246455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs558005238	chr15:45247228-45247229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs183325299	chr15:45247229-45247230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs537038354	chr15:45247263-45247264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs558792644	chr15:45247897-45247898	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs553170960	chr15:45247899-45247900	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs113855277	chr15:45247912-45247913	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs528693423	chr15:45248463-45248464	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs551512610	chr15:45248486-45248487	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs565257922	chr15:45248568-45248569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369235429	chr15:45248585-45248586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs11858389	chr15:45248625-45248626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45242400-45242600	Active TSS	K562	blood
2	chr15:45242600-45242800	Flanking Active TSS	K562	blood
3	chr15:45248800-45249200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:45248800-45249200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:45250000-45250400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr15:45250200-45250600	Enhancers	Liver	Liver

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