Variant report

Variant	nsv521786
Chromosome Location	chr1:76525783-76535434
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	chr1:76534227-76534567	HCT-116	colon:	n/a	n/a
2	CEBPB	chr1:76534197-76534706	A549	lung:	n/a	chr1:76534398-76534409 chr1:76534398-76534409
3	EP300	chr1:76534018-76534833	SK-N-SH	brain:	n/a	chr1:76534381-76534390
4	EP300	chr1:76534198-76534609	SK-N-SH_RA	brain:	n/a	chr1:76534381-76534390
5	EP300	chr1:76534002-76534830	SK-N-SH	brain:	n/a	chr1:76534381-76534390
6	EP300	chr1:76534319-76534572	SK-N-SH_RA	brain:	n/a	chr1:76534381-76534390
7	EP300	chr1:76532069-76532616	SK-N-SH	brain:	n/a	n/a
8	FOS	chr1:76530167-76530365	MCF10A-Er-Src	breast:	n/a	chr1:76530248-76530256
9	FOS	chr1:76532109-76532419	MCF10A-Er-Src	breast:	n/a	chr1:76532261-76532272 chr1:76532259-76532270 chr1:76532261-76532273 chr1:76532263-76532271
10	FOS	chr1:76532139-76532435	HUVEC	blood vessel:	n/a	chr1:76532261-76532272 chr1:76532259-76532270 chr1:76532261-76532273 chr1:76532263-76532271
11	FOS	chr1:76532172-76532445	MCF10A-Er-Src	breast:	n/a	chr1:76532261-76532272 chr1:76532259-76532270 chr1:76532261-76532273 chr1:76532263-76532271
12	FOS	chr1:76534195-76534575	MCF10A-Er-Src	breast:	n/a	chr1:76534379-76534390 chr1:76534380-76534389
13	FOS	chr1:76530160-76530346	MCF10A-Er-Src	breast:	n/a	chr1:76530248-76530256
14	FOS	chr1:76534207-76534559	MCF10A-Er-Src	breast:	n/a	chr1:76534379-76534390 chr1:76534380-76534389
15	FOS	chr1:76533992-76534626	HUVEC	blood vessel:	n/a	chr1:76534379-76534390 chr1:76534380-76534389
16	FOS	chr1:76530219-76530392	MCF10A-Er-Src	breast:	n/a	chr1:76530248-76530256
17	FOS	chr1:76534246-76534532	MCF10A-Er-Src	breast:	n/a	chr1:76534379-76534390 chr1:76534380-76534389
18	FOS	chr1:76534186-76534526	MCF10A-Er-Src	breast:	n/a	chr1:76534379-76534390 chr1:76534380-76534389
19	FOSL1	chr1:76534125-76534656	HCT-116	colon:	n/a	chr1:76534380-76534389
20	FOSL2	chr1:76534061-76534756	SK-N-SH	brain:	n/a	chr1:76534380-76534389
21	FOSL2	chr1:76534172-76534600	SK-N-SH	brain:	n/a	chr1:76534380-76534389
22	FOSL2	chr1:76534268-76534550	HepG2	liver:	n/a	chr1:76534380-76534389
23	FOSL2	chr1:76531729-76532588	SK-N-SH	brain:	n/a	chr1:76532259-76532270 chr1:76532261-76532273 chr1:76532263-76532271
24	FOSL2	chr1:76534291-76534478	A549	lung:	n/a	chr1:76534380-76534389
25	FOSL2	chr1:76534141-76534709	A549	lung:	n/a	chr1:76534380-76534389
26	FOXA2	chr1:76534674-76535062	A549	lung:	n/a	n/a
27	GATA3	chr1:76531702-76532649	SK-N-SH	brain:	n/a	n/a
28	GATA3	chr1:76534144-76534691	A549	lung:	n/a	n/a
29	GATA3	chr1:76531702-76532615	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr1:76525072-76525810	A549	lung:	n/a	n/a
31	GATA3	chr1:76533897-76535170	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr1:76533965-76535152	SK-N-SH	brain:	n/a	n/a
33	JUN	chr1:76532172-76532449	HUVEC	blood vessel:	n/a	chr1:76532259-76532270 chr1:76532261-76532273 chr1:76532263-76532271
34	JUN	chr1:76534130-76534572	HUVEC	blood vessel:	n/a	chr1:76534380-76534389
35	JUND	chr1:76534044-76534796	SK-N-SH	brain:	n/a	chr1:76534380-76534389
36	JUND	chr1:76534050-76534827	SK-N-SH	brain:	n/a	chr1:76534380-76534389
37	JUND	chr1:76534181-76534613	HCT-116	colon:	n/a	chr1:76534380-76534389
38	JUND	chr1:76534118-76534592	HCT-116	colon:	n/a	chr1:76534380-76534389
39	MAFK	chr1:76534948-76535013	IMR90	lung:	n/a	n/a
40	MAFK	chr1:76534080-76534315	HepG2	liver:	n/a	chr1:76534184-76534204 chr1:76534189-76534204
41	MAX	chr1:76532140-76532490	SK-N-SH	brain:	n/a	chr1:76532262-76532271
42	MEF2A	chr1:76534118-76534706	SK-N-SH	brain:	n/a	chr1:76534307-76534323 chr1:76534310-76534319 chr1:76534303-76534324 chr1:76534381-76534389 chr1:76534307-76534322 chr1:76534306-76534323 chr1:76534303-76534324 chr1:76534309-76534320 chr1:76534308-76534322
43	NFIC	chr1:76534009-76535195	SK-N-SH	brain:	n/a	chr1:76534381-76534397 chr1:76534380-76534397
44	NRF1	chr1:76535123-76535128	GM12878	blood:	n/a	n/a
45	PBX3	chr1:76534157-76535054	SK-N-SH	brain:	n/a	n/a
46	PBX3	chr1:76534114-76535069	SK-N-SH	brain:	n/a	n/a
47	PBX3	chr1:76531997-76532587	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr1:76532131-76532415	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr1:76534138-76534617	SK-N-SH	brain:	n/a	n/a
50	RXRA	chr1:76534034-76534693	SK-N-SH	brain:	n/a	chr1:76534237-76534253 chr1:76534381-76534390

No.	Distal block	Cell Line	Cell type
1	chr1:76532586..76534644-chr1:76541569..76543185,2	K562	blood:
2	chr1:76528266..76531083-chr1:76533694..76535257,2	MCF-7	breast:
3	chr1:76528266..76531083-chr1:76533694..76535257,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST6GALNAC3-1	chr1:76531723-76531913	ENSG00000230027
2	lnc-ST6GALNAC3-1	chr1:76531723-76531979	NONHSAT004011
3	lnc-ST6GALNAC3-1	chr1:76531723-76531979	NONHSAT004009

Variant related genes	Relation type
ST6GALNAC3	TF binding region

Extended variants
information (count: 360 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1251507	chr1:76525783-76525784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369657714	chr1:76525886-76525887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547669293	chr1:76525918-76525919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1251506	chr1:76525972-76525973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539641112	chr1:76526011-76526012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558069372	chr1:76526018-76526019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188683985	chr1:76526041-76526042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs59919627	chr1:76526050-76526051	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555860218	chr1:76526088-76526089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151229862	chr1:76526201-76526202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140431968	chr1:76526265-76526266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560465330	chr1:76526322-76526323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370434725	chr1:76526355-76526356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145527078	chr1:76526381-76526382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181123655	chr1:76526384-76526385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531409209	chr1:76526445-76526446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549588205	chr1:76526488-76526489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561853872	chr1:76526489-76526490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528848359	chr1:76526493-76526494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59469604	chr1:76526520-76526521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555580842	chr1:76526568-76526569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539750852	chr1:76526615-76526616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370793100	chr1:76526646-76526647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11588697	chr1:76526648-76526649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34926937	chr1:76526675-76526676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186247188	chr1:76526720-76526721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570175068	chr1:76526724-76526725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1266117	chr1:76526867-76526868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191103517	chr1:76526928-76526929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536197500	chr1:76526941-76526942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182404480	chr1:76526965-76526966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574235960	chr1:76526996-76526997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566071574	chr1:76527082-76527083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148399266	chr1:76527084-76527085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386367376	chr1:76527090-76527091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114912821	chr1:76527115-76527116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75693868	chr1:76527135-76527136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553413802	chr1:76527141-76527142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574438727	chr1:76527187-76527188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572336310	chr1:76527206-76527207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545802549	chr1:76527266-76527267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1251505	chr1:76527296-76527297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs146488963	chr1:76527323-76527324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543640809	chr1:76527353-76527354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17098027	chr1:76527361-76527362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1251504	chr1:76527364-76527365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540581193	chr1:76527366-76527367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565826970	chr1:76527418-76527419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533416469	chr1:76527419-76527420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187388217	chr1:76527424-76527425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76521800-76531000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:76524400-76526200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76524600-76526000	Enhancers	Brain Substantia Nigra	brain
4	chr1:76524800-76525800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:76524800-76526200	Enhancers	A549	lung
6	chr1:76525600-76527600	Weak transcription	Brain Germinal Matrix	brain
7	chr1:76526200-76528800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:76526200-76531000	Weak transcription	A549	lung
9	chr1:76528800-76529000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:76529800-76531600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:76530800-76531200	Enhancers	Fetal Lung	lung
12	chr1:76530800-76531400	Enhancers	Fetal Stomach	stomach
13	chr1:76531000-76531200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:76531000-76531200	Enhancers	A549	lung
15	chr1:76531000-76531400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:76531000-76531400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:76531000-76531400	Enhancers	Fetal Muscle Leg	muscle
18	chr1:76531000-76531400	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:76531200-76533800	Weak transcription	Fetal Lung	lung
20	chr1:76531200-76533800	Weak transcription	A549	lung
21	chr1:76531200-76535200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:76531400-76534000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:76531400-76534200	Weak transcription	Fetal Stomach	stomach
24	chr1:76531400-76534400	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:76531400-76535000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:76531400-76538600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:76531400-76539800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:76531600-76534000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:76531800-76532600	Enhancers	NHEK	skin
30	chr1:76531800-76534000	Enhancers	HUVEC	blood vessel
31	chr1:76532200-76532400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:76532200-76532400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:76532200-76532800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:76532200-76532800	Enhancers	NH-A	brain
35	chr1:76532400-76532600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:76532400-76532600	Enhancers	Aorta	Aorta
37	chr1:76532400-76532800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:76532400-76532800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:76532600-76533800	Weak transcription	NHEK	skin
40	chr1:76532600-76540000	Weak transcription	Aorta	Aorta
41	chr1:76532800-76533200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:76532800-76533800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:76532800-76533800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:76532800-76534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:76532800-76534000	Weak transcription	NH-A	brain
46	chr1:76533200-76535400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:76533800-76534400	Enhancers	A549	lung
48	chr1:76533800-76534800	Enhancers	NHEK	skin
49	chr1:76533800-76535200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:76533800-76535200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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