Variant report

Variant	nsv569304
Chromosome Location	chr15:45225516-45264045
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	BATF	chr15:45260122-45260297	GM12878	blood:	n/a	n/a
2	CBX3	chr15:45248617-45248975	K562	blood:	n/a	n/a
3	CEBPB	chr15:45230774-45230945	K562	blood:	n/a	n/a
4	CEBPB	chr15:45231991-45232144	K562	blood:	n/a	chr15:45232041-45232054
5	CHD2	chr15:45243973-45244102	K562	blood:	n/a	n/a
6	CTCF	chr15:45260105-45260349	GM13977	blood:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
7	CTCF	chr15:45260100-45260316	A549	lung:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
8	CTCF	chr15:45260104-45260352	Kidney_OC	kidney:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
9	CTCF	chr15:45260093-45260344	GM10248	blood:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
10	CTCF	chr15:45259883-45259953	GM19239	blood:	n/a	n/a
11	CTCF	chr15:45260201-45260254	A549	lung:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
12	CTCF	chr15:45260080-45260344	GM12878	blood:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
13	CTCF	chr15:45247226-45247264	GM10248	blood:	n/a	n/a
14	CTCF	chr15:45240948-45240984	ProgFib	skin:	n/a	n/a
15	CTCF	chr15:45260090-45260391	Spleen_OC	spleen:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
16	CTCF	chr15:45260099-45260353	GM10266	blood:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
17	CTCF	chr15:45259882-45259930	Gliobla	brain:	n/a	n/a
18	CTCF	chr15:45260088-45260366	Pancreas_OC	pancreas:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
19	CTCF	chr15:45260095-45260323	HepG2	liver:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
20	CTCF	chr15:45260116-45260313	MCF-7	breast:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
21	CTCF	chr15:45260102-45260327	GM13976	blood:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
22	CTCF	chr15:45260097-45260349	MCF-7	breast:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
23	CTCF	chr15:45260098-45260348	LNCaP	prostate:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
24	CTCF	chr15:45259827-45259964	GM19240	blood:	n/a	n/a
25	CTCF	chr15:45260130-45260304	ProgFib	skin:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
26	CTCF	chr15:45260203-45260236	MCF-7	breast:	n/a	n/a
27	CTCF	chr15:45259856-45259875	Gliobla	brain:	n/a	n/a
28	CTCF	chr15:45260196-45260273	GM19239	blood:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
29	CTCF	chr15:45260060-45260383	Medullo	brain:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
30	CTCF	chr15:45240562-45240707	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr15:45248720-45248870	GM12869	blood:	n/a	n/a
32	CTCF	chr15:45259851-45259951	GM19238	blood:	n/a	n/a
33	CTCF	chr15:45260094-45260336	Gliobla	brain:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
34	CTCF	chr15:45260063-45260376	HUVEC	blood vessel:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
35	CTCF	chr15:45260100-45260336	A549	lung:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
36	CTCF	chr15:45260058-45260344	A549	lung:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
37	CTCF	chr15:45260092-45260439	K562	blood:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
38	CTCF	chr15:45260031-45260369	A549	lung:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
39	CTCF	chr15:45259861-45259938	GM13977	blood:	n/a	n/a
40	CTCF	chr15:45260143-45260296	GM20000	blood:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
41	CTCF	chr15:45260080-45260338	Hela-S3	cervix:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
42	CTCF	chr15:45259847-45259966	GM12891	blood:	n/a	n/a
43	CTCF	chr15:45260080-45260354	K562	blood:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
44	CTCF	chr15:45240737-45240753	GM13977	blood:	n/a	n/a
45	CTCF	chr15:45260093-45260355	LNCaP	prostate:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
46	CTCF	chr15:45259856-45259973	GM12892	blood:	n/a	n/a
47	CTCF	chr15:45260116-45260358	Lung_OC	lung:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
48	CUX1	chr15:45232031-45232212	K562	blood:	n/a	n/a
49	E2F6	chr15:45248619-45249124	H1-hESC	embryonic stem cell:	n/a	n/a
50	EP300	chr15:45248553-45248874	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45248806-45248856	NH-A	brain:	n/a
2	chr15:45248806-45248856	NH-A	brain:	n/a
3	chr15:45247870-45247920	BJ	skin:	n/a
4	chr15:45247870-45247920	HMEC	breast:	n/a
5	chr15:45248932-45248982	SK-N-SH	brain:	n/a
6	chr15:45248463-45248513	T-47D	breast:	n/a
7	chr15:45247870-45247920	HRCEpiC	kidney:	n/a
8	chr15:45248878-45248928	AG04450	lung:	fetal
9	chr15:45248806-45248856	LNCaP	prostate:	n/a
10	chr15:45248463-45248513	SK-N-SH	brain:	n/a
11	chr15:45248878-45248928	GM06990	blood:	n/a
12	chr15:45248878-45248928	HRPEpiC	eye:	n/a
13	chr15:45248878-45248928	PrEC	prostate:	n/a
14	chr15:45248463-45248513	SKMC	muscle:	n/a
15	chr15:45248744-45248794	A549	lung:	n/a
16	chr15:45248878-45248928	HNPCEpiC	eye:	n/a
17	chr15:45248463-45248513	Hela-S3	cervix:	n/a
18	chr15:45248932-45248982	SKMC	muscle:	n/a
19	chr15:45248932-45248982	BJ	skin:	n/a
20	chr15:45248744-45248794	HCPEpiC	choroid plexus:	n/a
21	chr15:45248806-45248856	AG09319	gingival:	n/a
22	chr15:45248932-45248982	PrEC	prostate:	n/a
23	chr15:45248932-45248982	MCF-7	breast:	n/a
24	chr15:45248463-45248513	GM19239	blood:	n/a
25	chr15:45248932-45248982	U87	brain:	n/a
26	chr15:45248744-45248794	T-47D	breast:	n/a
27	chr15:45248932-45248982	GM19239	blood:	n/a
28	chr15:45248806-45248856	GM06990	blood:	n/a
29	chr15:45248806-45248856	Hela-S3	cervix:	n/a
30	chr15:45248744-45248794	MCF10A-Er-Src	breast:	n/a
31	chr15:45248744-45248794	GM06990	blood:	n/a
32	chr15:45248806-45248856	GM12892	blood:	n/a
33	chr15:45248744-45248794	SAEC	small airway:	n/a
34	chr15:45248463-45248513	AG10803	skin:	n/a
35	chr15:45248463-45248513	AG09309	skin:	n/a
36	chr15:45248463-45248513	AoSMC	blood vessel:	n/a
37	chr15:45248744-45248794	AG10803	skin:	n/a
38	chr15:45248744-45248794	K562	blood:	n/a
39	chr15:45248878-45248928	ECC-1	luminal epithelium:	n/a
40	chr15:45248463-45248513	HIPEpiC	eye:	n/a
41	chr15:45247870-45247920	HNPCEpiC	eye:	n/a
42	chr15:45248878-45248928	SK-N-SH_RA	brain:	n/a
43	chr15:45248878-45248928	GM12891	blood:	n/a
44	chr15:45247870-45247920	HepG2	liver:	n/a
45	chr15:45247870-45247920	RPTEC	kidney:	n/a
46	chr15:45248932-45248982	AG10803	skin:	n/a
47	chr15:45247870-45247920	Jurkat	blood:	n/a
48	chr15:45248878-45248928	HEK293	kidney:	embryo
49	chr15:45248806-45248856	Caco-2	colon:	n/a
50	chr15:45248744-45248794	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45003163..45005190-chr15:45225441..45227864,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DUOX2-4	chr15:45262233-45263376	NONHSAT042205

Variant related genes	Relation type
RNU6-966P	TF binding region
C15orf43	TF binding region
RNU6-1332P	TF binding region
ENSG00000259742	TF binding region
ENSG00000259304	TF binding region
RNU6-966P	CpG island
C15orf43	CpG island
RNU6-1332P	CpG island
ENSG00000259742	CpG island
ENSG00000259304	CpG island
ENSG00000166710	chromatin interactions
ENSG00000229474	chromatin interactions

Extended variants
information (count: 262 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539661260	chr15:45225564-45225565	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532193945	chr15:45225594-45225595	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs150992281	chr15:45225612-45225613	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568985685	chr15:45225665-45225666	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs140816745	chr15:45225680-45225681	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557550086	chr15:45225685-45225686	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567722361	chr15:45225741-45225742	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs58642393	chr15:45225778-45225779	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs61494863	chr15:45225780-45225781	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188013109	chr15:45225784-45225785	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs2457650	chr15:45225789-45225790	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538686533	chr15:45225816-45225817	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs146574146	chr15:45225822-45225823	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141276806	chr15:45225860-45225861	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544345501	chr15:45225871-45225872	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561418515	chr15:45225874-45225875	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574575956	chr15:45225875-45225876	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540426537	chr15:45225883-45225884	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs560476275	chr15:45225912-45225913	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs2457651	chr15:45225920-45225921	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs3959610	chr15:45225923-45225924	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs72722041	chr15:45225928-45225929	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2457652	chr15:45225966-45225967	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs144989932	chr15:45225984-45225985	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531449115	chr15:45226041-45226042	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs548012630	chr15:45226070-45226071	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568124938	chr15:45226135-45226136	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536491204	chr15:45226181-45226182	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs376643317	chr15:45226183-45226184	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs546780126	chr15:45226231-45226232	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs192154506	chr15:45226303-45226304	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs543765281	chr15:45226364-45226365	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558544468	chr15:45226398-45226399	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs575584335	chr15:45226443-45226444	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369250537	chr15:45226477-45226478	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs538218641	chr15:45226565-45226566	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs370360371	chr15:45226569-45226570	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs562459412	chr15:45226605-45226606	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs149016100	chr15:45226615-45226616	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373389657	chr15:45226641-45226642	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs143806897	chr15:45226718-45226719	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs560345582	chr15:45226724-45226725	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533020969	chr15:45226728-45226729	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs183187781	chr15:45226735-45226736	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs569075231	chr15:45226739-45226740	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79267637	chr15:45226748-45226749	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs80036916	chr15:45226749-45226750	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111689972	chr15:45226754-45226755	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs56218405	chr15:45226769-45226770	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548960344	chr15:45226771-45226772	Inactive region	Chromatin interactive region	2 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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