Variant report

Variant	nsv1045741
Chromosome Location	chr15:60323323-60350625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:60337165-60337365	K562	blood:	n/a	n/a
2	ATF1	chr15:60330938-60331112	K562	blood:	n/a	n/a
3	ATF1	chr15:60327596-60327858	K562	blood:	n/a	n/a
4	BATF	chr15:60325729-60325922	GM12878	blood:	n/a	n/a
5	CEBPB	chr15:60337170-60337449	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr15:60337126-60337473	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr15:60350480-60350630	GM12868	blood:	n/a	n/a
8	CTCF	chr15:60330500-60330650	NHEK	skin:	n/a	chr15:60330526-60330535
9	CTCF	chr15:60345400-60345550	HMEC	breast:	n/a	n/a
10	CTCF	chr15:60330400-60330550	WERI-Rb-1	eye:	n/a	chr15:60330526-60330535
11	E2F4	chr15:60345087-60345415	MCF10A-Er-Src	breast:	n/a	n/a
12	ELK1	chr15:60337126-60337330	Hela-S3	cervix:	n/a	n/a
13	FOS	chr15:60344948-60345395	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr15:60339996-60340276	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr15:60343317-60343649	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr15:60343310-60343625	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr15:60327659-60327860	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr15:60337297-60337359	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr15:60340010-60340211	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr15:60343373-60343640	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr15:60345027-60345325	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr15:60345069-60345352	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr15:60339971-60340252	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr15:60343315-60343641	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr15:60344949-60345399	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr15:60330943-60331143	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr15:60339974-60340256	MCF10A-Er-Src	breast:	n/a	n/a
28	FOXA1	chr15:60327619-60327751	T-47D	breast:	n/a	n/a
29	FOXA1	chr15:60327563-60327941	HepG2	liver:	n/a	chr15:60327745-60327760
30	FOXA2	chr15:60327552-60327967	A549	lung:	n/a	n/a
31	JUND	chr15:60337178-60337474	H1-hESC	embryonic stem cell:	n/a	n/a
32	KAP1	chr15:60341988-60342998	K562	blood:	n/a	n/a
33	MAFF	chr15:60336099-60336279	K562	blood:	n/a	n/a
34	MAFF	chr15:60335987-60336262	HepG2	liver:	n/a	n/a
35	MAFK	chr15:60336117-60336187	Hela-S3	cervix:	n/a	n/a
36	MAFK	chr15:60336064-60336242	IMR90	lung:	n/a	n/a
37	MAFK	chr15:60335970-60336303	HepG2	liver:	n/a	n/a
38	MAFK	chr15:60335963-60336307	HepG2	liver:	n/a	n/a
39	MAX	chr15:60336788-60336807	NB4	blood:	n/a	n/a
40	MYC	chr15:60345057-60345254	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr15:60348471-60348492	MCF-7	breast:	n/a	n/a
42	MYC	chr15:60337076-60337475	NB4	blood:	n/a	chr15:60337304-60337313
43	POLR2A	chr15:60329921-60330103	Gliobla	brain:	n/a	n/a
44	SETDB1	chr15:60338018-60338454	U2OS	brain:	n/a	n/a
45	SETDB1	chr15:60342161-60342696	U2OS	brain:	n/a	n/a
46	SPI1	chr15:60325737-60325919	GM12878	blood:	n/a	n/a
47	STAT3	chr15:60341175-60341188	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr15:60345012-60345312	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr15:60327748-60327889	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr15:60343392-60343620	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:60331745-60331795	NHBE	bronchial:	n/a
2	chr15:60331745-60331795	H1-hESC	embryonic stem cell:	embryo
3	chr15:60337250-60337300	HRCEpiC	kidney:	n/a
4	chr15:60337250-60337300	BJ	skin:	n/a
5	chr15:60331745-60331795	Jurkat	blood:	n/a
6	chr15:60331745-60331795	HIPEpiC	eye:	n/a
7	chr15:60337250-60337300	H1-hESC	embryonic stem cell:	embryo
8	chr15:60331745-60331795	HRPEpiC	eye:	n/a
9	chr15:60337250-60337300	HUVEC	blood vessel:	n/a
10	chr15:60331745-60331795	ECC-1	luminal epithelium:	n/a
11	chr15:60331745-60331795	GM19239	blood:	n/a
12	chr15:60337250-60337300	IMR90	lung:	fetal
13	chr15:60337250-60337300	AG04449	skin:	fetal
14	chr15:60337250-60337300	GM06990	blood:	n/a
15	chr15:60331745-60331795	SAEC	small airway:	n/a
16	chr15:60337250-60337300	SK-N-SH	brain:	n/a
17	chr15:60331745-60331795	HAEpiC	amniotic membrane:	n/a
18	chr15:60331745-60331795	GM12878	blood:	n/a
19	chr15:60337250-60337300	SK-N-MC	brain:	n/a
20	chr15:60331745-60331795	HNPCEpiC	eye:	n/a
21	chr15:60337250-60337300	NHBE	bronchial:	n/a
22	chr15:60331745-60331795	SKMC	muscle:	n/a
23	chr15:60337250-60337300	PANC-1	pancreas:	n/a
24	chr15:60337250-60337300	RPTEC	kidney:	n/a
25	chr15:60331745-60331795	HPAEpiC	pulmonary alveolar:	n/a
26	chr15:60331745-60331795	BJ	skin:	n/a
27	chr15:60331745-60331795	HEK293	kidney:	embryo
28	chr15:60337250-60337300	GM12892	blood:	n/a
29	chr15:60337250-60337300	U87	brain:	n/a
30	chr15:60331745-60331795	AG09319	gingival:	n/a
31	chr15:60337250-60337300	ovcar-3	ovarian:	n/a
32	chr15:60337250-60337300	LNCaP	prostate:	n/a
33	chr15:60337250-60337300	HPAEpiC	pulmonary alveolar:	n/a
34	chr15:60331745-60331795	PFSK-1	brain:	n/a
35	chr15:60331745-60331795	HepG2	liver:	n/a
36	chr15:60337250-60337300	NHDF-neo	bronchial:	n/a
37	chr15:60331745-60331795	PANC-1	pancreas:	n/a
38	chr15:60331745-60331795	HRCEpiC	kidney:	n/a
39	chr15:60331745-60331795	SK-N-MC	brain:	n/a
40	chr15:60337250-60337300	GM12878	blood:	n/a
41	chr15:60331745-60331795	BE2_C	brain:	n/a
42	chr15:60337250-60337300	A549	lung:	n/a
43	chr15:60337250-60337300	AG09309	skin:	n/a
44	chr15:60331745-60331795	IMR90	lung:	fetal
45	chr15:60331745-60331795	AoSMC	blood vessel:	n/a
46	chr15:60337250-60337300	NB4	blood:	n/a
47	chr15:60331745-60331795	ProgFib	skin:	n/a
48	chr15:60331745-60331795	RPTEC	kidney:	n/a
49	chr15:60337250-60337300	ProgFib	skin:	n/a
50	chr15:60337250-60337300	Hela-S3	cervix:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:60321662..60323517-chr15:60325565..60328073,2	K562	blood:
2	chr15:60321662..60323517-chr15:60325565..60328073,2	K562	blood:
3	chr15:60336258..60337887-chr15:60346739..60349719,2	MCF-7	breast:
4	chr15:60336258..60337887-chr15:60346739..60349719,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXB1-6	chr15:60328329-60328441	NONHSAT044193
2	lnc-FOXB1-6	chr15:60328309-60328428	NONHSAT044192
3	lnc-ANXA2-3	chr15:60345403-60346291	NONHSAT044194
4	lnc-FOXB1-6	chr15:60333811-60334098	NONHSAT044193

No data

Variant related genes	Relation type
FOXB1	TF binding region
MESTP2	TF binding region
FOXB1	CpG island
MESTP2	CpG island

Extended variants
information (count: 999 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:999 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186811192	chr15:60323378-60323379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549579132	chr15:60323423-60323424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561319936	chr15:60323424-60323425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148196741	chr15:60323435-60323436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372938209	chr15:60323450-60323451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141812765	chr15:60323460-60323461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559038853	chr15:60323486-60323487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192889702	chr15:60323509-60323510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73425257	chr15:60323553-60323554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs79888483	chr15:60323572-60323573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564008458	chr15:60323607-60323608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569650364	chr15:60323629-60323630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376331616	chr15:60323644-60323645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117265105	chr15:60323656-60323657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573746778	chr15:60323677-60323678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535130842	chr15:60323717-60323718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72739953	chr15:60323752-60323753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs578088030	chr15:60323836-60323837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34609310	chr15:60323842-60323843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545450064	chr15:60323862-60323863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138150299	chr15:60323939-60323940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142541876	chr15:60323976-60323977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530606964	chr15:60324005-60324006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542940921	chr15:60324038-60324039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561539452	chr15:60324041-60324042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150573050	chr15:60324049-60324050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73425258	chr15:60324116-60324117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184593297	chr15:60324117-60324118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558989874	chr15:60324131-60324132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200557902	chr15:60324139-60324140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189864089	chr15:60324195-60324196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151301836	chr15:60325450-60325451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73425264	chr15:60325451-60325452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532317274	chr15:60325471-60325472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140757002	chr15:60325479-60325480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569287466	chr15:60325507-60325508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78542519	chr15:60325542-60325543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548340799	chr15:60325586-60325587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186239301	chr15:60325739-60325740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs73425266	chr15:60325826-60325827	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375671071	chr15:60325833-60325834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs191480154	chr15:60325834-60325835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs140222164	chr15:60325853-60325854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs565149254	chr15:60325854-60325855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs532426288	chr15:60325889-60325890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs116761029	chr15:60327568-60327569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs533875960	chr15:60327573-60327574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs149124326	chr15:60327602-60327603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs570367719	chr15:60327610-60327611	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs537819094	chr15:60327611-60327612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:60317800-60324200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:60325400-60325600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:60329000-60329200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr15:60329000-60329200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:60329200-60329800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:60329200-60329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:60329200-60330000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr15:60329200-60331200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr15:60329200-60332200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr15:60329800-60330600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:60329800-60330600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:60329800-60331000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr15:60329800-60331000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr15:60329800-60332200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr15:60330000-60330200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr15:60330000-60330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:60330000-60330200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:60330000-60330600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr15:60330000-60330800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr15:60330000-60330800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:60330000-60330800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:60330000-60330800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:60330000-60331000	Enhancers	NHEK	skin
24	chr15:60330200-60330400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr15:60330200-60330400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr15:60330200-60330600	Enhancers	Lung	lung
27	chr15:60330200-60331200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:60330200-60334400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr15:60330400-60330600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr15:60330400-60331200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr15:60330600-60331800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:60330600-60334800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr15:60330600-60335600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:60330600-60336400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:60330800-60331800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:60330800-60333000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr15:60331000-60331400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:60331000-60331400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:60331200-60331600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr15:60331200-60332000	Enhancers	H9 Cell Line	embryonic stem cell
41	chr15:60331400-60332000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr15:60331400-60335000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr15:60331600-60335000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr15:60331800-60332000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:60332000-60332400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:60332000-60333000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:60332000-60334000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:60332200-60332800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:60332200-60336400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr15:60332400-60334200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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