Variant report

Variant	nsv1014302
Chromosome Location	chr1:80755143-80803574
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	CEBPB	chr1:80784561-80784761	A549	lung:	n/a	n/a
2	CEBPB	chr1:80758562-80758804	K562	blood:	n/a	chr1:80758663-80758674 chr1:80758661-80758672 chr1:80758661-80758674
3	CEBPB	chr1:80784586-80784803	HepG2	liver:	n/a	n/a
4	CEBPB	chr1:80758555-80758803	HepG2	liver:	n/a	chr1:80758663-80758674 chr1:80758661-80758672 chr1:80758661-80758674
5	CEBPB	chr1:80798417-80798682	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr1:80758590-80758834	IMR90	lung:	n/a	chr1:80758663-80758674 chr1:80758661-80758672 chr1:80758661-80758674
7	CEBPB	chr1:80784526-80784853	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:80767553-80767581	K562	blood:	n/a	n/a
9	CTCF	chr1:80791630-80791694	ProgFib	skin:	n/a	n/a
10	CTCF	chr1:80796302-80796326	LNCaP	prostate:	n/a	n/a
11	CTCF	chr1:80773940-80774090	HRE	kidney:	n/a	n/a
12	E2F4	chr1:80798379-80798661	MCF10A-Er-Src	breast:	n/a	n/a
13	ELK1	chr1:80785710-80785719	K562	blood:	n/a	n/a
14	EP300	chr1:80794411-80794445	GM12878	blood:	n/a	n/a
15	FOS	chr1:80787166-80787357	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr1:80771010-80771137	MCF10A-Er-Src	breast:	n/a	chr1:80771068-80771077 chr1:80771067-80771079 chr1:80771069-80771077 chr1:80771069-80771076
17	FOS	chr1:80798436-80798700	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr1:80798414-80798656	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr1:80787123-80787318	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:80798432-80798713	MCF10A-Er-Src	breast:	n/a	n/a
21	GATA3	chr1:80782210-80782278	SH-SY5Y	brain:	n/a	chr1:80782243-80782250 chr1:80782243-80782250 chr1:80782243-80782250 chr1:80782239-80782255 chr1:80782236-80782257
22	GATA3	chr1:80773059-80773128	SH-SY5Y	brain:	n/a	chr1:80773062-80773078 chr1:80773059-80773080 chr1:80773066-80773075 chr1:80773062-80773078
23	GATA3	chr1:80761727-80761916	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr1:80771951-80772025	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr1:80776846-80777170	SH-SY5Y	brain:	n/a	n/a
26	IRF3	chr1:80780726-80780727	GM12878	blood:	n/a	n/a
27	IRF4	chr1:80796553-80796925	GM12878	blood:	n/a	n/a
28	JUN	chr1:80759556-80759832	HepG2	liver:	n/a	chr1:80759689-80759702
29	JUND	chr1:80770997-80771197	HepG2	liver:	n/a	chr1:80771068-80771077 chr1:80771067-80771079 chr1:80771069-80771077 chr1:80771069-80771076 chr1:80771067-80771078
30	JUND	chr1:80759553-80759838	HepG2	liver:	n/a	n/a
31	MAFF	chr1:80772093-80772365	HepG2	liver:	n/a	chr1:80772228-80772246
32	MAFF	chr1:80777395-80777647	HepG2	liver:	n/a	n/a
33	MAFF	chr1:80768012-80768510	HepG2	liver:	n/a	n/a
34	MAFF	chr1:80777358-80777624	K562	blood:	n/a	n/a
35	MAFK	chr1:80777367-80777640	IMR90	lung:	n/a	n/a
36	MAFK	chr1:80768064-80768557	HepG2	liver:	n/a	chr1:80768154-80768165 chr1:80768154-80768165
37	MAFK	chr1:80772093-80772405	HepG2	liver:	n/a	chr1:80772234-80772245 chr1:80772229-80772245 chr1:80772229-80772244 chr1:80772234-80772245
38	MAFK	chr1:80757391-80757643	HepG2	liver:	n/a	n/a
39	MAFK	chr1:80768219-80768443	HepG2	liver:	n/a	n/a
40	MAFK	chr1:80777383-80777667	HepG2	liver:	n/a	n/a
41	MAFK	chr1:80757487-80757560	HepG2	liver:	n/a	n/a
42	MAFK	chr1:80772101-80772318	HepG2	liver:	n/a	chr1:80772234-80772245 chr1:80772229-80772245 chr1:80772229-80772244 chr1:80772234-80772245
43	MAFK	chr1:80777357-80777648	HepG2	liver:	n/a	n/a
44	MAX	chr1:80784617-80784730	NB4	blood:	n/a	n/a
45	MAZ	chr1:80763660-80763798	HepG2	liver:	n/a	n/a
46	MYC	chr1:80776456-80776705	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr1:80793497-80793534	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr1:80765999-80766079	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr1:80766993-80767026	GM12878	blood:	n/a	n/a
50	MYC	chr1:80790858-80791058	MCF10A-Er-Src	breast:	n/a	chr1:80790939-80790948

No.	Distal block	Cell Line	Cell type
1	chr1:80754826..80757744-chr1:80760526..80762840,2	K562	blood:
2	chr1:80784427..80786663-chr1:80792675..80794437,2	K562	blood:
3	chr1:80754826..80757744-chr1:80760526..80762840,2	K562	blood:
4	chr1:80380861..80381772-chr1:80785065..80785571,2	K562	blood:
5	chr1:80784427..80786663-chr1:80792675..80794437,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LPHN2-10	chr1:80774028-80774215	NONHSAT004110
2	lnc-LPHN2-10	chr1:80774028-80774215	NONHSAT004109
3	lnc-ELTD1-13	chr1:80773251-80773525	NONHSAT004108
4	lnc-LPHN2-10	chr1:80778862-80778909	NONHSAT004109

Variant related genes	Relation type
ENSG00000266033	TF binding region

Extended variants
information (count: 1016 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1016 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373480169	chr1:80755149-80755150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570370720	chr1:80755160-80755161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377360591	chr1:80755163-80755164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537805340	chr1:80755178-80755179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554585624	chr1:80755209-80755210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560006744	chr1:80755275-80755276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549911134	chr1:80755288-80755289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568084213	chr1:80755307-80755308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369136658	chr1:80755323-80755324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6659107	chr1:80755342-80755343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533644825	chr1:80755345-80755346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190636975	chr1:80755354-80755355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576918022	chr1:80755381-80755382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578164044	chr1:80755426-80755427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545602913	chr1:80755594-80755595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563421855	chr1:80755603-80755604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372902873	chr1:80755636-80755637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575953803	chr1:80755638-80755639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546005553	chr1:80755665-80755666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67146732	chr1:80755703-80755704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138085991	chr1:80755717-80755718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs66481875	chr1:80755720-80755721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541162829	chr1:80755728-80755729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149468524	chr1:80755731-80755732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193015476	chr1:80755744-80755745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143860716	chr1:80755749-80755750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570334304	chr1:80755752-80755753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529599200	chr1:80755755-80755756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549741306	chr1:80755830-80755831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397799608	chr1:80755831-80755832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567963486	chr1:80755834-80755835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533786094	chr1:80755872-80755873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71645130	chr1:80755898-80755899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570543764	chr1:80755909-80755910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539219969	chr1:80755926-80755927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556320608	chr1:80755938-80755939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148643699	chr1:80755939-80755940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115534192	chr1:80755998-80755999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541049660	chr1:80756021-80756022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185642983	chr1:80756046-80756047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113233672	chr1:80756062-80756063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555679459	chr1:80756160-80756161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188474544	chr1:80756191-80756192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541423158	chr1:80756210-80756211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538709581	chr1:80756217-80756218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564387411	chr1:80756238-80756239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78272949	chr1:80756260-80756261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543969374	chr1:80756276-80756277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34919715	chr1:80756291-80756292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529561830	chr1:80756320-80756321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Ewing''s sarcoma	17952124	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
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80745000-80758800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:80758800-80759000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:80759000-80761400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:80761200-80762400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:80761400-80761800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:80765000-80765400	Enhancers	Fetal Brain Male	brain
7	chr1:80771200-80771800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:80771400-80771800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:80771600-80772000	Enhancers	Fetal Brain Male	brain
10	chr1:80771800-80776600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:80776400-80776800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:80776600-80777000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:80776600-80777400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:80787600-80790000	Weak transcription	Hela-S3	cervix
15	chr1:80796600-80796800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:80796800-80804600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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