Variant report

Variant	esv1820823
Chromosome Location	chr1:179455645-179479803
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	BHLHE40	chr1:179479255-179479554	GM12878	blood:	n/a	n/a
2	CEBPB	chr1:179478064-179478203	K562	blood:	n/a	chr1:179478093-179478104 chr1:179478093-179478106 chr1:179478094-179478105
3	CEBPB	chr1:179471780-179471966	IMR90	lung:	n/a	n/a
4	CEBPB	chr1:179479594-179479841	IMR90	lung:	n/a	chr1:179479673-179479684
5	CEBPB	chr1:179479559-179479759	K562	blood:	n/a	chr1:179479673-179479684
6	CEBPB	chr1:179477950-179478265	HepG2	liver:	n/a	chr1:179478093-179478104 chr1:179478093-179478106 chr1:179478094-179478105
7	CEBPB	chr1:179477942-179478200	IMR90	lung:	n/a	chr1:179478093-179478104 chr1:179478093-179478106 chr1:179478094-179478105
8	CEBPB	chr1:179471742-179471926	A549	lung:	n/a	n/a
9	CEBPB	chr1:179471773-179471946	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr1:179471685-179471978	HepG2	liver:	n/a	n/a
11	CEBPB	chr1:179468682-179468724	K562	blood:	n/a	n/a
12	CEBPB	chr1:179479533-179479814	HepG2	liver:	n/a	chr1:179479673-179479684
13	CEBPB	chr1:179479629-179479803	A549	lung:	n/a	chr1:179479673-179479684
14	CEBPB	chr1:179471785-179471955	K562	blood:	n/a	n/a
15	CEBPB	chr1:179468606-179468861	A549	lung:	n/a	n/a
16	CEBPB	chr1:179477976-179478194	A549	lung:	n/a	chr1:179478093-179478104 chr1:179478093-179478106 chr1:179478094-179478105
17	CTCF	chr1:179475496-179475584	MCF-7	breast:	n/a	n/a
18	CTCF	chr1:179475480-179475630	HepG2	liver:	n/a	n/a
19	CTCF	chr1:179475478-179475592	HepG2	liver:	n/a	n/a
20	CTCF	chr1:179475520-179475670	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr1:179466896-179467021	GM10266	blood:	n/a	n/a
22	CTCF	chr1:179475455-179475588	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr1:179475400-179475550	GM12864	blood:	n/a	n/a
24	CTCF	chr1:179475469-179475626	K562	blood:	n/a	n/a
25	CTCF	chr1:179461300-179461370	Lung_OC	lung:	n/a	n/a
26	CTCF	chr1:179475446-179475631	K562	blood:	n/a	n/a
27	CTCF	chr1:179475510-179475616	Gliobla	brain:	n/a	n/a
28	CTCF	chr1:179461286-179461332	LNCaP	prostate:	n/a	n/a
29	E2F4	chr1:179462542-179462948	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr1:179472298-179472491	MCF10A-Er-Src	breast:	n/a	n/a
31	ELK1	chr1:179479282-179479429	GM12878	blood:	n/a	n/a
32	EP300	chr1:179479158-179479473	GM12878	blood:	n/a	n/a
33	EP300	chr1:179475513-179475519	GM12878	blood:	n/a	n/a
34	FOS	chr1:179462587-179462752	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr1:179462609-179462741	MCF10A-Er-Src	breast:	n/a	n/a
36	GATA3	chr1:179476073-179476081	SH-SY5Y	brain:	n/a	n/a
37	JUN	chr1:179459806-179460117	HepG2	liver:	n/a	chr1:179459945-179459958
38	JUND	chr1:179459795-179460134	HepG2	liver:	n/a	n/a
39	KAP1	chr1:179456091-179456217	U2OS	brain:	n/a	n/a
40	MAFF	chr1:179478628-179478790	K562	blood:	n/a	chr1:179478715-179478733
41	MAFF	chr1:179478570-179478866	HepG2	liver:	n/a	chr1:179478715-179478733
42	MAFK	chr1:179478576-179478881	HepG2	liver:	n/a	chr1:179478716-179478731 chr1:179478720-179478731 chr1:179478721-179478732 chr1:179478720-179478731 chr1:179478721-179478732
43	MAFK	chr1:179478604-179478848	IMR90	lung:	n/a	chr1:179478716-179478731 chr1:179478720-179478731 chr1:179478721-179478732 chr1:179478720-179478731 chr1:179478721-179478732
44	MAFK	chr1:179459934-179460036	HepG2	liver:	n/a	n/a
45	MAFK	chr1:179478634-179478819	Hela-S3	cervix:	n/a	chr1:179478716-179478731 chr1:179478720-179478731 chr1:179478721-179478732 chr1:179478720-179478731 chr1:179478721-179478732
46	MAFK	chr1:179461718-179462035	IMR90	lung:	n/a	chr1:179461839-179461849
47	MAFK	chr1:179478548-179478892	HepG2	liver:	n/a	chr1:179478716-179478731 chr1:179478720-179478731 chr1:179478721-179478732 chr1:179478720-179478731 chr1:179478721-179478732
48	MYC	chr1:179470752-179470762	MCF-7	breast:	n/a	n/a
49	MYC	chr1:179476266-179476365	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr1:179470807-179470844	ProgFib	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:179459849-179459899	SKMC	muscle:	n/a
2	chr1:179459849-179459899	SKMC	muscle:	n/a
3	chr1:179459849-179459899	BJ	skin:	n/a
4	chr1:179459849-179459899	H1-hESC	embryonic stem cell:	embryo
5	chr1:179459849-179459899	U87	brain:	n/a
6	chr1:179459849-179459899	AoSMC	blood vessel:	n/a
7	chr1:179459849-179459899	SAEC	small airway:	n/a
8	chr1:179459849-179459899	NHDF-neo	bronchial:	n/a
9	chr1:179459849-179459899	PFSK-1	brain:	n/a
10	chr1:179459849-179459899	HCM	heart:	n/a
11	chr1:179459849-179459899	MCF10A-Er-Src	breast:	n/a
12	chr1:179459849-179459899	GM19239	blood:	n/a
13	chr1:179459849-179459899	IMR90	lung:	fetal
14	chr1:179459849-179459899	SK-N-MC	brain:	n/a
15	chr1:179459849-179459899	PrEC	prostate:	n/a
16	chr1:179459849-179459899	HAEpiC	amniotic membrane:	n/a
17	chr1:179459849-179459899	NHBE	bronchial:	n/a
18	chr1:179459849-179459899	CMK	blood:	n/a
19	chr1:179459849-179459899	HRE	kidney:	n/a
20	chr1:179459849-179459899	ovcar-3	ovarian:	n/a
21	chr1:179459849-179459899	Jurkat	blood:	n/a
22	chr1:179459849-179459899	HUVEC	blood vessel:	n/a
23	chr1:179459849-179459899	RPTEC	kidney:	n/a
24	chr1:179459849-179459899	HIPEpiC	eye:	n/a
25	chr1:179459849-179459899	HCPEpiC	choroid plexus:	n/a
26	chr1:179459849-179459899	A549	lung:	n/a
27	chr1:179459849-179459899	SK-N-SH	brain:	n/a
28	chr1:179459849-179459899	Hela-S3	cervix:	n/a
29	chr1:179459849-179459899	AG04450	lung:	fetal
30	chr1:179459849-179459899	HMEC	breast:	n/a
31	chr1:179459849-179459899	T-47D	breast:	n/a
32	chr1:179459849-179459899	HPAEpiC	pulmonary alveolar:	n/a
33	chr1:179459849-179459899	HRCEpiC	kidney:	n/a
34	chr1:179459849-179459899	GM06990	blood:	n/a
35	chr1:179459849-179459899	LNCaP	prostate:	n/a
36	chr1:179459849-179459899	GM12878	blood:	n/a
37	chr1:179459849-179459899	NH-A	brain:	n/a
38	chr1:179459849-179459899	AG09319	gingival:	n/a
39	chr1:179459849-179459899	HCF	heart:	n/a
40	chr1:179459849-179459899	HEEpiC	esophagus:	n/a
41	chr1:179459849-179459899	Caco-2	colon:	n/a
42	chr1:179459849-179459899	HEK293	kidney:	embryo
43	chr1:179459849-179459899	AG04449	skin:	fetal
44	chr1:179459849-179459899	HepG2	liver:	n/a
45	chr1:179459849-179459899	ECC-1	luminal epithelium:	n/a
46	chr1:179459849-179459899	NB4	blood:	n/a
47	chr1:179459849-179459899	GM12891	blood:	n/a
48	chr1:179459849-179459899	Hepatocyte	liver:	n/a
49	chr1:179459849-179459899	K562	blood:	n/a
50	chr1:179459849-179459899	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:179464371..179466688-chr1:179474524..179476785,2	MCF-7	breast:
2	chr1:179465791..179468521-chr1:179470887..179473606,2	MCF-7	breast:
3	chr1:179465791..179468521-chr1:179470887..179473606,2	MCF-7	breast:
4	chr1:179464371..179466688-chr1:179474524..179476785,2	MCF-7	breast:
5	chr1:179477575..179481033-chr1:179483963..179487085,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TDRD5-3	chr1:179472147-179472264	NONHSAT007863
2	lnc-TDRD5-3	chr1:179473391-179473496	NONHSAT007863
3	lnc-TDRD5-3	chr1:179474329-179474363	NONHSAT007863

Variant related genes	Relation type
ENSG00000269064	TF binding region
AXDND1	TF binding region
ENSG00000269064	CpG island
AXDND1	CpG island

Extended variants
information (count: 185 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566966913	chr1:179455999-179456000	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs374825995	chr1:179456024-179456025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs552426158	chr1:179456051-179456052	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559617949	chr1:179456052-179456053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs117375177	chr1:179456076-179456077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs148696830	chr1:179456093-179456094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs141314768	chr1:179456134-179456135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs28508518	chr1:179456190-179456191	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188955363	chr1:179456221-179456222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs190937050	chr1:179456239-179456240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111778775	chr1:179456259-179456260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs367893256	chr1:179456276-179456277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs114127823	chr1:179456286-179456287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs182698911	chr1:179456313-179456314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs552626664	chr1:179456349-179456350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs534442095	chr1:179456353-179456354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs535209438	chr1:179456379-179456380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs187916944	chr1:179456394-179456395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs113718893	chr1:179456790-179456791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs561844601	chr1:179456806-179456807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs386637179	chr1:179456812-179456813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs9787115	chr1:179456813-179456814	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs199787091	chr1:179456834-179456835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs78964829	chr1:179456839-179456840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs377355389	chr1:179456845-179456846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs532750465	chr1:179456941-179456942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs9786979	chr1:179456987-179456988	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs566224795	chr1:179457047-179457048	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs534906428	chr1:179457058-179457059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs71114524	chr1:179457131-179457132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs184121640	chr1:179459850-179459851	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
32	rs553652426	chr1:179459894-179459895	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
33	rs200809555	chr1:179459897-179459898	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
34	rs202006475	chr1:179459900-179459901	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs200770737	chr1:179459911-179459912	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs200881994	chr1:179459912-179459913	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs567575210	chr1:179459914-179459915	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs536183654	chr1:179459924-179459925	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs542514356	chr1:179459950-179459951	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs556406830	chr1:179460031-179460032	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs576146220	chr1:179460044-179460045	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs187450560	chr1:179460067-179460068	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs72704426	chr1:179460074-179460075	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144602510	chr1:179460079-179460080	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs75480489	chr1:179460117-179460118	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs6425567	chr1:179460125-179460126	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs529466830	chr1:179460126-179460127	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs79965475	chr1:179460131-179460132	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs531602186	chr1:179460169-179460170	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs182502643	chr1:179460196-179460197	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179476400-179476800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:179476600-179477800	Enhancers	Stomach Mucosa	stomach
3	chr1:179476800-179478200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:179478200-179478400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:179478800-179479000	Enhancers	GM12878-XiMat	blood
6	chr1:179478800-179479600	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:179479000-179479200	Flanking Active TSS	GM12878-XiMat	blood
8	chr1:179479200-179479400	Enhancers	GM12878-XiMat	blood
9	chr1:179479400-179479600	Flanking Active TSS	GM12878-XiMat	blood

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