Variant report

Variant	nsv1051403
Chromosome Location	chr15:34573065-34600474
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	ARID3A	chr15:34593477-34593641	HepG2	liver:	n/a	chr15:34593519-34593535
2	BACH1	chr15:34597385-34597505	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr15:34589603-34589889	GM12878	blood:	n/a	n/a
4	BHLHE40	chr15:34596867-34597078	HepG2	liver:	n/a	n/a
5	BHLHE40	chr15:34577187-34577436	K562	blood:	n/a	n/a
6	CEBPB	chr15:34597092-34597303	K562	blood:	n/a	chr15:34597235-34597248 chr15:34597235-34597246 chr15:34597236-34597247
7	CEBPB	chr15:34586202-34586390	IMR90	lung:	n/a	chr15:34586341-34586352
8	CEBPB	chr15:34597069-34597395	A549	lung:	n/a	chr15:34597235-34597248 chr15:34597235-34597246 chr15:34597236-34597247
9	CEBPB	chr15:34597053-34597395	HepG2	liver:	n/a	chr15:34597235-34597248 chr15:34597235-34597246 chr15:34597236-34597247
10	CEBPB	chr15:34596912-34597413	IMR90	lung:	n/a	chr15:34597235-34597248 chr15:34597235-34597246 chr15:34597236-34597247
11	CEBPB	chr15:34586202-34586390	HepG2	liver:	n/a	chr15:34586341-34586352
12	CTCF	chr15:34584580-34584870	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr15:34584780-34584930	HEK293	kidney:	n/a	n/a
14	CTCF	chr15:34598767-34598813	GM10266	blood:	n/a	n/a
15	CTCF	chr15:34584700-34584850	HepG2	liver:	n/a	n/a
16	CTCF	chr15:34584800-34584950	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr15:34576038-34576059	ProgFib	skin:	n/a	n/a
18	CTCF	chr15:34584563-34584675	Hela-S3	cervix:	n/a	n/a
19	CUX1	chr15:34588405-34588431	GM12878	blood:	n/a	n/a
20	ELK1	chr15:34589801-34589807	GM12878	blood:	n/a	n/a
21	EP300	chr15:34589285-34589572	GM12878	blood:	n/a	n/a
22	EP300	chr15:34596780-34597235	HepG2	liver:	n/a	chr15:34596909-34596918
23	FOS	chr15:34593320-34593588	MCF10A-Er-Src	breast:	n/a	chr15:34593463-34593471 chr15:34593464-34593475
24	FOS	chr15:34593425-34593492	MCF10A-Er-Src	breast:	n/a	chr15:34593463-34593471 chr15:34593464-34593475
25	FOS	chr15:34593319-34593524	MCF10A-Er-Src	breast:	n/a	chr15:34593463-34593471 chr15:34593464-34593475
26	FOSL2	chr15:34593283-34593528	HepG2	liver:	n/a	chr15:34593463-34593471 chr15:34593464-34593475
27	FOXA1	chr15:34593344-34593592	HepG2	liver:	n/a	n/a
28	FOXA1	chr15:34596751-34597380	HepG2	liver:	n/a	n/a
29	FOXA1	chr15:34596768-34597167	HepG2	liver:	n/a	n/a
30	FOXA2	chr15:34593329-34593608	HepG2	liver:	n/a	n/a
31	GATA1	chr15:34576941-34577661	PBDE	blood:	n/a	n/a
32	IRF1	chr15:34577029-34577515	K562	blood:	n/a	n/a
33	IRF1	chr15:34577149-34577503	K562	blood:	n/a	n/a
34	JUN	chr15:34599724-34599880	HepG2	liver:	n/a	n/a
35	JUND	chr15:34593346-34593591	HepG2	liver:	n/a	chr15:34593461-34593472 chr15:34593463-34593471 chr15:34593464-34593475
36	JUND	chr15:34599701-34599935	HepG2	liver:	n/a	chr15:34599790-34599801
37	MAFF	chr15:34596855-34597143	HepG2	liver:	n/a	n/a
38	MAFK	chr15:34596895-34597181	HepG2	liver:	n/a	n/a
39	MAFK	chr15:34596801-34597176	IMR90	lung:	n/a	n/a
40	MAFK	chr15:34596895-34597107	HepG2	liver:	n/a	n/a
41	MEF2A	chr15:34589178-34589624	GM12878	blood:	n/a	chr15:34589297-34589314
42	NFIC	chr15:34589216-34589740	GM12878	blood:	n/a	n/a
43	NR2F2	chr15:34593303-34593536	MCF-7	breast:	n/a	n/a
44	POLR2A	chr15:34596117-34596281	GM12891	blood:	n/a	n/a
45	POLR2A	chr15:34593780-34594021	GM12878	blood:	n/a	n/a
46	POLR2A	chr15:34576001-34576098	A549	lung:	n/a	n/a
47	POLR2A	chr15:34594908-34594915	Gliobla	brain:	n/a	n/a
48	POLR2A	chr15:34598439-34598627	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:34589314-34589409	GM12878	blood:	n/a	n/a
50	POLR2A	chr15:34592651-34592659	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:34594934..34596711-chr15:34606010..34608946,2	K562	blood:
2	chr15:34598914..34602759-chr15:34631261..34635438,4	K562	blood:
3	chr15:34584866..34587109-chr15:34608710..34611023,2	K562	blood:
4	chr15:34590151..34592277-chr15:34605995..34607909,2	K562	blood:
5	chr15:34597292..34600237-chr15:34600566..34603010,2	K562	blood:
6	chr15:34546535..34549806-chr15:34599595..34603199,3	K562	blood:
7	chr15:34600219..34602527-chr15:34605319..34607496,2	K562	blood:
8	chr15:34568431..34570123-chr15:34573544..34575147,2	K562	blood:

Variant related genes	Relation type
SLC12A6	TF binding region
ENSG00000207091	chromatin interactions
ENSG00000259468	chromatin interactions
ENSG00000182117	chromatin interactions
ENSG00000140199	chromatin interactions

Extended variants
information (count: 1081 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1081 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144727061	chr15:34573123-34573124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117718115	chr15:34573125-34573126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560412407	chr15:34573127-34573128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552903322	chr15:34573143-34573144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557779219	chr15:34573147-34573148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56833597	chr15:34573169-34573170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539207874	chr15:34573188-34573189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557977036	chr15:34573195-34573196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572402906	chr15:34573206-34573207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144189262	chr15:34573235-34573236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146538716	chr15:34573243-34573244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185984516	chr15:34573366-34573367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140421268	chr15:34573376-34573377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540643611	chr15:34573474-34573475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191110340	chr15:34573526-34573527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183259303	chr15:34573529-34573530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34511245	chr15:34573558-34573559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545270153	chr15:34573624-34573625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75926870	chr15:34573692-34573693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531207923	chr15:34573693-34573694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377134671	chr15:34573742-34573743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549668587	chr15:34573743-34573744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144542532	chr15:34573755-34573756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535536186	chr15:34573756-34573757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369344067	chr15:34573757-34573758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144127630	chr15:34573772-34573773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571644121	chr15:34573775-34573776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539161718	chr15:34573825-34573826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551269867	chr15:34573857-34573858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569545140	chr15:34573859-34573860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186122321	chr15:34573920-34573921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556814429	chr15:34573921-34573922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs405080	chr15:34573943-34573944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs573611542	chr15:34573944-34573945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12324469	chr15:34573981-34573982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552979857	chr15:34574085-34574086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539435287	chr15:34574093-34574094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371019627	chr15:34574130-34574131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148157432	chr15:34574136-34574137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13379650	chr15:34574141-34574142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138615720	chr15:34574154-34574155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs420576	chr15:34574175-34574176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575872341	chr15:34574180-34574181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141116147	chr15:34574191-34574192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543253013	chr15:34574200-34574201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112591162	chr15:34574296-34574297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79404045	chr15:34574317-34574318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12591967	chr15:34574330-34574331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs546665451	chr15:34574362-34574363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138431444	chr15:34574399-34574400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34546800-34573800	Weak transcription	HUVEC	blood vessel
2	chr15:34547600-34591200	Weak transcription	Aorta	Aorta
3	chr15:34548200-34592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:34550000-34587400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:34551200-34577000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:34551400-34577200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:34555200-34584200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:34555200-34584600	Weak transcription	Esophagus	oesophagus
10	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
11	chr15:34562400-34584000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:34564000-34577000	Weak transcription	Fetal Heart	heart
13	chr15:34565000-34584600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:34565200-34575400	Weak transcription	GM12878-XiMat	blood
15	chr15:34565200-34575600	Weak transcription	Primary B cells from cord blood	blood
16	chr15:34565200-34575600	Weak transcription	Primary T cells from cord blood	blood
17	chr15:34565200-34584600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr15:34565600-34583200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:34566200-34584600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr15:34566400-34583400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:34566800-34584600	Weak transcription	Liver	Liver
22	chr15:34567600-34577200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr15:34568000-34584600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr15:34568200-34584600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:34569600-34577200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:34569800-34577000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr15:34570000-34584000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr15:34570200-34577000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:34572600-34577400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:34572600-34583000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:34575400-34576200	Strong transcription	GM12878-XiMat	blood
32	chr15:34575600-34576000	Strong transcription	Primary B cells from cord blood	blood
33	chr15:34575600-34577600	Strong transcription	Primary T cells from cord blood	blood
34	chr15:34576000-34584400	Weak transcription	Primary B cells from cord blood	blood
35	chr15:34576200-34584800	Weak transcription	GM12878-XiMat	blood
36	chr15:34577000-34577400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr15:34577000-34577400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr15:34577000-34577600	Enhancers	Duodenum Mucosa	Duodenum
39	chr15:34577000-34577600	Enhancers	K562	blood
40	chr15:34577000-34577800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:34577000-34578000	Enhancers	Fetal Heart	heart
42	chr15:34577200-34577600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr15:34577200-34577800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:34577200-34577800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:34577200-34578000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr15:34577400-34577600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr15:34577400-34577600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr15:34577400-34577800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:34577400-34577800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr15:34577400-34577800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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