Variant report

Variant	nsv520575
Chromosome Location	chr1:77166815-77196032
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	BATF	chr1:77179188-77179435	GM12878	blood:	n/a	n/a
2	BCL11A	chr1:77179232-77179520	GM12878	blood:	n/a	n/a
3	BCL11A	chr1:77179313-77179521	GM12878	blood:	n/a	n/a
4	CEBPB	chr1:77167086-77167347	HepG2	liver:	n/a	chr1:77167220-77167231
5	CEBPB	chr1:77181111-77181550	HCT-116	colon:	n/a	chr1:77181291-77181302 chr1:77181330-77181341
6	CEBPB	chr1:77181194-77181509	Hela-S3	cervix:	n/a	chr1:77181291-77181302 chr1:77181330-77181341
7	CEBPB	chr1:77182007-77182282	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:77181160-77181514	HepG2	liver:	n/a	chr1:77181291-77181302 chr1:77181330-77181341
9	CEBPB	chr1:77181200-77181483	A549	lung:	n/a	chr1:77181291-77181302 chr1:77181330-77181341
10	CEBPB	chr1:77167065-77167392	IMR90	lung:	n/a	chr1:77167220-77167231
11	CEBPB	chr1:77181235-77181390	K562	blood:	n/a	chr1:77181291-77181302 chr1:77181330-77181341
12	CEBPB	chr1:77167167-77167294	H1-hESC	embryonic stem cell:	n/a	chr1:77167220-77167231
13	CEBPB	chr1:77181185-77181456	IMR90	lung:	n/a	chr1:77181291-77181302 chr1:77181330-77181341
14	CTCF	chr1:77179258-77179397	GM12878	blood:	n/a	n/a
15	CTCF	chr1:77190480-77190630	GM06990	blood:	n/a	n/a
16	CTCF	chr1:77172801-77172818	GM13976	blood:	n/a	n/a
17	CTCF	chr1:77172560-77172710	GM12868	blood:	n/a	n/a
18	CTCF	chr1:77186959-77186976	Kidney_OC	kidney:	n/a	n/a
19	CUX1	chr1:77168993-77169038	GM12878	blood:	n/a	n/a
20	E2F4	chr1:77185472-77185635	MCF10A-Er-Src	breast:	n/a	n/a
21	EBF1	chr1:77179409-77179464	GM12878	blood:	n/a	n/a
22	EP300	chr1:77181411-77181628	GM12878	blood:	n/a	n/a
23	EP300	chr1:77179341-77179637	GM12878	blood:	n/a	n/a
24	EP300	chr1:77179242-77179583	GM12878	blood:	n/a	n/a
25	FOS	chr1:77171355-77171580	MCF10A-Er-Src	breast:	n/a	chr1:77171416-77171424 chr1:77171417-77171424 chr1:77171415-77171424
26	FOS	chr1:77171308-77171563	MCF10A-Er-Src	breast:	n/a	chr1:77171416-77171424 chr1:77171417-77171424 chr1:77171415-77171424
27	FOS	chr1:77171284-77171554	MCF10A-Er-Src	breast:	n/a	chr1:77171416-77171424 chr1:77171417-77171424 chr1:77171415-77171424
28	FOS	chr1:77181240-77181482	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr1:77171322-77171584	MCF10A-Er-Src	breast:	n/a	chr1:77171416-77171424 chr1:77171417-77171424 chr1:77171415-77171424
30	GATA3	chr1:77166960-77167239	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr1:77166890-77167366	SK-N-SH	brain:	n/a	n/a
32	HNF4A	chr1:77195744-77196039	HepG2	liver:	n/a	chr1:77195895-77195908 chr1:77195893-77195911 chr1:77195895-77195907 chr1:77195896-77195908 chr1:77195895-77195909
33	IRF1	chr1:77182971-77182991	K562	blood:	n/a	n/a
34	JUN	chr1:77179379-77179671	HepG2	liver:	n/a	n/a
35	JUND	chr1:77179330-77179690	HepG2	liver:	n/a	chr1:77179505-77179516
36	JUND	chr1:77171281-77171483	HepG2	liver:	n/a	chr1:77171416-77171424 chr1:77171417-77171424 chr1:77171414-77171425 chr1:77171415-77171424
37	MAFF	chr1:77193179-77193537	HepG2	liver:	n/a	chr1:77193337-77193355 chr1:77193343-77193357
38	MAFF	chr1:77191996-77192284	HepG2	liver:	n/a	chr1:77192152-77192170
39	MAFF	chr1:77195823-77195845	HepG2	liver:	n/a	n/a
40	MAFK	chr1:77191996-77192312	HepG2	liver:	n/a	n/a
41	MAFK	chr1:77180630-77180856	HepG2	liver:	n/a	n/a
42	MAFK	chr1:77170491-77170594	HepG2	liver:	n/a	chr1:77170516-77170530 chr1:77170517-77170528 chr1:77170517-77170528
43	MAFK	chr1:77170482-77170539	HepG2	liver:	n/a	chr1:77170517-77170528 chr1:77170517-77170528 chr1:77170516-77170530
44	MAFK	chr1:77193193-77193509	H1-hESC	embryonic stem cell:	n/a	chr1:77193343-77193357 chr1:77193339-77193354 chr1:77193344-77193354 chr1:77193340-77193360 chr1:77193344-77193353 chr1:77193342-77193358
45	MAFK	chr1:77179413-77179618	HepG2	liver:	n/a	n/a
46	MAFK	chr1:77191991-77192320	HepG2	liver:	n/a	n/a
47	MAFK	chr1:77193205-77193504	IMR90	lung:	n/a	chr1:77193343-77193357 chr1:77193339-77193354 chr1:77193344-77193354 chr1:77193340-77193360 chr1:77193344-77193353 chr1:77193342-77193358
48	MAFK	chr1:77193181-77193535	HepG2	liver:	n/a	chr1:77193343-77193357 chr1:77193339-77193354 chr1:77193344-77193354 chr1:77193340-77193360 chr1:77193344-77193353 chr1:77193342-77193358
49	MAFK	chr1:77193163-77193531	HepG2	liver:	n/a	chr1:77193343-77193357 chr1:77193339-77193354 chr1:77193344-77193354 chr1:77193340-77193360 chr1:77193344-77193353 chr1:77193342-77193358
50	MAFK	chr1:77193247-77193400	Hela-S3	cervix:	n/a	chr1:77193343-77193357 chr1:77193339-77193354 chr1:77193344-77193354 chr1:77193340-77193360 chr1:77193344-77193353 chr1:77193342-77193358

No.	Distal block	Cell Line	Cell type
1	chr1:77180012..77182664-chr1:77186329..77188985,2	MCF-7	breast:
2	chr1:77169289..77170251-chr1:77243231..77243897,2	MCF-7	breast:
3	chr1:77180012..77182664-chr1:77186329..77188985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264686	TF binding region

Extended variants
information (count: 544 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184111226	chr1:77179115-77179116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574414008	chr1:77179140-77179141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs145311114	chr1:77179154-77179155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs113499713	chr1:77179184-77179185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs12044196	chr1:77179185-77179186	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556611022	chr1:77179240-77179241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs72995683	chr1:77179299-77179300	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187704255	chr1:77179322-77179323	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376175691	chr1:77179323-77179324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs533230900	chr1:77179347-77179348	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs192223176	chr1:77179360-77179361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs140850609	chr1:77179390-77179391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs537000146	chr1:77179412-77179413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs375579832	chr1:77179434-77179435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs150142277	chr1:77179502-77179503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs114289140	chr1:77179505-77179506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs145539208	chr1:77179506-77179507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs572208462	chr1:77179515-77179516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs576980989	chr1:77179596-77179597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs539528958	chr1:77179617-77179618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs664576	chr1:77179690-77179691	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192935452	chr1:77180636-77180637	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs148379492	chr1:77180649-77180650	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs141551004	chr1:77180689-77180690	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs61784837	chr1:77180712-77180713	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150883995	chr1:77180713-77180714	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs77804439	chr1:77180777-77180778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs142770268	chr1:77180778-77180779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs561259066	chr1:77181138-77181139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs526256	chr1:77181163-77181164	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184554223	chr1:77181180-77181181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs77865766	chr1:77181238-77181239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs189536505	chr1:77181261-77181262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs74952322	chr1:77181264-77181265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs192181883	chr1:77181411-77181412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs535642398	chr1:77181456-77181457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs536732206	chr1:77181465-77181466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs185037703	chr1:77181471-77181472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs75343423	chr1:77181472-77181473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs534280046	chr1:77181473-77181474	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs372172473	chr1:77181526-77181527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs189378659	chr1:77181543-77181544	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs549695440	chr1:77181547-77181548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs533054209	chr1:77182010-77182011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs148690692	chr1:77182022-77182023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs569741280	chr1:77182077-77182078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs57120164	chr1:77182080-77182081	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs10493594	chr1:77182102-77182103	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374910289	chr1:77182114-77182115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs142203686	chr1:77182165-77182166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77183600-77183800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:77183800-77187800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:77184600-77185200	Enhancers	Fetal Lung	lung
4	chr1:77185800-77186600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:77186600-77191600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:77188200-77188600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:77189800-77190000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:77190400-77191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:77191400-77192200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:77191400-77192400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:77191600-77192200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:77191600-77192200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:77191600-77192200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:77191600-77192200	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:77191600-77192400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:77191600-77192400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:77191600-77192400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:77191600-77192600	Enhancers	Brain Substantia Nigra	brain
19	chr1:77191600-77192800	Enhancers	Fetal Stomach	stomach
20	chr1:77191800-77192200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:77191800-77192400	Enhancers	Brain Hippocampus Middle	brain
22	chr1:77192000-77192200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr1:77192000-77192400	Enhancers	Brain Germinal Matrix	brain
24	chr1:77192200-77193000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:77192400-77194800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:77192800-77193200	Weak transcription	Fetal Stomach	stomach
27	chr1:77193000-77194000	Enhancers	Fetal Heart	heart
28	chr1:77193200-77193600	Enhancers	Fetal Stomach	stomach
29	chr1:77194000-77195000	Weak transcription	Fetal Heart	heart
30	chr1:77195000-77196200	Enhancers	Fetal Heart	heart
31	chr1:77195600-77196600	Enhancers	HepG2	liver

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