Variant report

Variant	nsv1051734
Chromosome Location	chr15:73717945-73753660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:856)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr15:73746576-73746693	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr15:73728466-73728798	HepG2	liver:	n/a	chr15:73728615-73728626
3	CEBPB	chr15:73728515-73728794	A549	lung:	n/a	chr15:73728615-73728626
4	CEBPB	chr15:73728465-73728784	K562	blood:	n/a	chr15:73728615-73728626
5	CEBPB	chr15:73751480-73751793	K562	blood:	n/a	n/a
6	CEBPB	chr15:73728490-73728758	IMR90	lung:	n/a	chr15:73728615-73728626
7	CEBPB	chr15:73747389-73747644	HepG2	liver:	n/a	n/a
8	CEBPB	chr15:73736457-73736574	HepG2	liver:	n/a	n/a
9	CHD2	chr15:73740625-73740764	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr15:73735465-73735479	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr15:73719887-73719964	Fibrobl	skin:	n/a	n/a
12	E2F4	chr15:73727299-73727578	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F6	chr15:73735083-73735614	H1-hESC	embryonic stem cell:	n/a	chr15:73735495-73735504
14	E2F6	chr15:73735271-73735655	H1-hESC	embryonic stem cell:	n/a	chr15:73735495-73735504
15	E2F6	chr15:73735316-73735520	K562	blood:	n/a	chr15:73735495-73735504
16	ELF1	chr15:73735169-73735519	K562	blood:	n/a	chr15:73735378-73735389 chr15:73735376-73735389 chr15:73735378-73735389
17	FOS	chr15:73739527-73739705	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr15:73739589-73739714	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr15:73740543-73740774	T-47D	breast:	n/a	n/a
20	FOXA2	chr15:73740490-73741028	A549	lung:	n/a	n/a
21	FOXA2	chr15:73740429-73740855	A549	lung:	n/a	n/a
22	JUN	chr15:73752229-73752548	K562	blood:	n/a	n/a
23	JUND	chr15:73739488-73739740	HepG2	liver:	n/a	chr15:73739633-73739644
24	MAFF	chr15:73746472-73746822	HepG2	liver:	n/a	chr15:73746627-73746645
25	MAFF	chr15:73746471-73746815	K562	blood:	n/a	chr15:73746627-73746645
26	MAFF	chr15:73729107-73729251	K562	blood:	n/a	n/a
27	MAFF	chr15:73731751-73731796	HepG2	liver:	n/a	n/a
28	MAFK	chr15:73746468-73746822	IMR90	lung:	n/a	n/a
29	MAFK	chr15:73731660-73731897	HepG2	liver:	n/a	n/a
30	MAFK	chr15:73746466-73746814	K562	blood:	n/a	n/a
31	MAFK	chr15:73746550-73746800	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAFK	chr15:73746483-73746817	HepG2	liver:	n/a	n/a
33	MAFK	chr15:73731692-73731817	HepG2	liver:	n/a	n/a
34	MAFK	chr15:73729025-73729302	H1-hESC	embryonic stem cell:	n/a	chr15:73729170-73729180 chr15:73729170-73729179
35	MAFK	chr15:73746517-73746799	Hela-S3	cervix:	n/a	n/a
36	MAFK	chr15:73746462-73746824	HepG2	liver:	n/a	n/a
37	MAX	chr15:73719917-73720044	NB4	blood:	n/a	chr15:73719919-73719935
38	MYC	chr15:73717977-73718090	GM12878	blood:	n/a	n/a
39	NFYA	chr15:73735340-73735617	K562	blood:	n/a	chr15:73735466-73735476 chr15:73735465-73735478
40	NFYB	chr15:73723209-73723493	K562	blood:	n/a	n/a
41	NFYB	chr15:73735233-73735647	K562	blood:	n/a	chr15:73735466-73735476 chr15:73735465-73735478
42	NFYB	chr15:73723213-73723634	GM12878	blood:	n/a	n/a
43	NR2F2	chr15:73751562-73751783	K562	blood:	n/a	n/a
44	POLR2A	chr15:73749689-73749754	K562	blood:	n/a	n/a
45	POLR2A	chr15:73727744-73727865	MCF-7	breast:	n/a	n/a
46	POLR2A	chr15:73727889-73727907	MCF-7	breast:	n/a	n/a
47	POLR2A	chr15:73742686-73742743	K562	blood:	n/a	n/a
48	POLR2A	chr15:73727908-73727912	MCF-7	breast:	n/a	n/a
49	POLR2A	chr15:73719007-73719195	K562	blood:	n/a	n/a
50	POLR2A	chr15:73739940-73740061	K562	blood:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:73735098-73735148	HMEC	breast:	n/a
2	chr15:73731737-73731787	Caco-2	colon:	n/a
3	chr15:73735098-73735148	HMEC	breast:	n/a
4	chr15:73731737-73731787	Caco-2	colon:	n/a
5	chr15:73735476-73735526	HIPEpiC	eye:	n/a
6	chr15:73735455-73735505	Hepatocyte	liver:	n/a
7	chr15:73735608-73735658	NH-A	brain:	n/a
8	chr15:73735333-73735383	PANC-1	pancreas:	n/a
9	chr15:73735509-73735559	NHDF-neo	bronchial:	n/a
10	chr15:73731737-73731787	ProgFib	skin:	n/a
11	chr15:73735291-73735341	HUVEC	blood vessel:	n/a
12	chr15:73735509-73735559	AG04450	lung:	fetal
13	chr15:73735608-73735658	NB4	blood:	n/a
14	chr15:73735291-73735341	Caco-2	colon:	n/a
15	chr15:73734744-73734794	HCPEpiC	choroid plexus:	n/a
16	chr15:73735333-73735383	CMK	blood:	n/a
17	chr15:73731737-73731787	HPAEpiC	pulmonary alveolar:	n/a
18	chr15:73731737-73731787	K562	blood:	n/a
19	chr15:73735333-73735383	H1-hESC	embryonic stem cell:	embryo
20	chr15:73734744-73734794	SK-N-SH_RA	brain:	n/a
21	chr15:73731737-73731787	CMK	blood:	n/a
22	chr15:73735531-73735581	BE2_C	brain:	n/a
23	chr15:73735323-73735373	SK-N-SH_RA	brain:	n/a
24	chr15:73735531-73735581	NHDF-neo	bronchial:	n/a
25	chr15:73735407-73735457	ovcar-3	ovarian:	n/a
26	chr15:73731737-73731787	SAEC	small airway:	n/a
27	chr15:73734744-73734794	AG09309	skin:	n/a
28	chr15:73735694-73735744	HEEpiC	esophagus:	n/a
29	chr15:73735098-73735148	A549	lung:	n/a
30	chr15:73734744-73734794	HPAEpiC	pulmonary alveolar:	n/a
31	chr15:73735531-73735581	U87	brain:	n/a
32	chr15:73734744-73734794	HMEC	breast:	n/a
33	chr15:73735382-73735432	H1-hESC	embryonic stem cell:	embryo
34	chr15:73735608-73735658	HEEpiC	esophagus:	n/a
35	chr15:73731737-73731787	HEK293	kidney:	embryo
36	chr15:73735455-73735505	AoSMC	blood vessel:	n/a
37	chr15:73735455-73735505	GM12892	blood:	n/a
38	chr15:73735531-73735581	Hela-S3	cervix:	n/a
39	chr15:73735323-73735373	SK-N-SH	brain:	n/a
40	chr15:73735509-73735559	HepG2	liver:	n/a
41	chr15:73735608-73735658	GM12891	blood:	n/a
42	chr15:73735407-73735457	HRPEpiC	eye:	n/a
43	chr15:73735098-73735148	GM06990	blood:	n/a
44	chr15:73735509-73735559	GM12891	blood:	n/a
45	chr15:73735694-73735744	ProgFib	skin:	n/a
46	chr15:73735323-73735373	BE2_C	brain:	n/a
47	chr15:73735509-73735559	Hepatocyte	liver:	n/a
48	chr15:73735098-73735148	AG04449	skin:	fetal
49	chr15:73735455-73735505	AG10803	skin:	n/a
50	chr15:73735323-73735373	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:73721709..73723915-chr15:73732625..73735002,2	MCF-7	breast:
2	chr15:73721709..73723915-chr15:73732625..73735002,2	MCF-7	breast:
3	chr15:73752556..73755114-chr15:73923552..73926057,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEO1-2	chr15:73739613-73740142	expReg_chr15_5712_+

No data

Variant related genes	Relation type
C15orf60	TF binding region
C15orf60	CpG island
ENSG00000156642	chromatin interactions

Extended variants
information (count: 685 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:685 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16957885	chr15:73717945-73717946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114196981	chr15:73717963-73717964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556029110	chr15:73717984-73717985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571307221	chr15:73718004-73718005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538667356	chr15:73718021-73718022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553825646	chr15:73718036-73718037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193115588	chr15:73718048-73718049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542953795	chr15:73718077-73718078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554844620	chr15:73718123-73718124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75014804	chr15:73718175-73718176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144534374	chr15:73718177-73718178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374300556	chr15:73718455-73718456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571885056	chr15:73718497-73718498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148012033	chr15:73718508-73718509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185582276	chr15:73718566-73718567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564001935	chr15:73718591-73718592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143509484	chr15:73718694-73718695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552716177	chr15:73718699-73718700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79979573	chr15:73718731-73718732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34867391	chr15:73718800-73718801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374957988	chr15:73718815-73718816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538755379	chr15:73718831-73718832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79493186	chr15:73718878-73718879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186670232	chr15:73718891-73718892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10468058	chr15:73718920-73718921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554600771	chr15:73718928-73718929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191135744	chr15:73719042-73719043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147147593	chr15:73719198-73719199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558729100	chr15:73719227-73719228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576587798	chr15:73719228-73719229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541128497	chr15:73719266-73719267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs118141974	chr15:73719332-73719333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184140255	chr15:73719374-73719375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28672234	chr15:73719386-73719387	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373634056	chr15:73719503-73719504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367659096	chr15:73719541-73719542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187737357	chr15:73723222-73723223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538504750	chr15:73723226-73723227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113595013	chr15:73723259-73723260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2415151	chr15:73723265-73723266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs370840050	chr15:73723269-73723270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545496798	chr15:73723311-73723312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563835922	chr15:73723313-73723314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570839210	chr15:73723339-73723340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191476390	chr15:73723347-73723348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2415150	chr15:73723352-73723353	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529189084	chr15:73723384-73723385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576581847	chr15:73723392-73723393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147626047	chr15:73727822-73727823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149508449	chr15:73727860-73727861	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73715200-73718200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:73718400-73718800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr15:73718400-73719000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr15:73718400-73719200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:73718600-73718800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr15:73718600-73719000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr15:73718600-73719000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr15:73718600-73719000	Enhancers	Fetal Heart	heart
9	chr15:73718600-73719600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr15:73718800-73719200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr15:73718800-73719200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr15:73718800-73719200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr15:73723200-73723400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:73727800-73728000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr15:73728000-73731000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:73728600-73731200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr15:73729000-73729200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:73729000-73729400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr15:73729000-73730200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:73729000-73731000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr15:73729200-73730200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr15:73729200-73730400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr15:73729200-73735200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:73730400-73731000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr15:73731000-73731200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr15:73731000-73731200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr15:73731200-73731400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr15:73735200-73735800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:73735800-73741000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:73739400-73739600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:73739600-73740600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:73740000-73741600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr15:73740200-73740400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr15:73740200-73740400	Enhancers	A549	lung
35	chr15:73740200-73740800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr15:73740200-73740800	Enhancers	K562	blood
37	chr15:73740200-73741000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr15:73740200-73741000	Enhancers	Gastric	stomach
39	chr15:73740200-73741200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr15:73740200-73741200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr15:73740200-73741400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:73740200-73741600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr15:73740200-73741600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:73740200-73741800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:73740400-73740600	Flanking Active TSS	Stomach Mucosa	stomach
46	chr15:73740400-73740800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr15:73740400-73740800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr15:73740600-73740800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:73740600-73741200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr15:73740600-73741400	Enhancers	Stomach Mucosa	stomach

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