Variant report

Variant	nsv539421
Chromosome Location	chr8:5697292-5753366
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	chr8:5731799-5732146	HepG2	liver:	n/a	chr8:5731971-5731982
2	CEBPB	chr8:5731891-5732130	IMR90	lung:	n/a	chr8:5731971-5731982
3	CEBPB	chr8:5743087-5743365	A549	lung:	n/a	chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249
4	CEBPB	chr8:5743105-5743392	K562	blood:	n/a	chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249
5	CEBPB	chr8:5731815-5732103	A549	lung:	n/a	chr8:5731971-5731982
6	CEBPB	chr8:5731829-5732132	H1-hESC	embryonic stem cell:	n/a	chr8:5731971-5731982
7	CEBPB	chr8:5731871-5732051	K562	blood:	n/a	chr8:5731971-5731982
8	CEBPB	chr8:5743115-5743330	H1-hESC	embryonic stem cell:	n/a	chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249
9	CEBPB	chr8:5743074-5743414	IMR90	lung:	n/a	chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249
10	CEBPB	chr8:5743077-5743413	HepG2	liver:	n/a	chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249
11	CEBPB	chr8:5710994-5711190	HepG2	liver:	n/a	chr8:5711068-5711079
12	CEBPB	chr8:5750468-5750687	HepG2	liver:	n/a	n/a
13	CTCF	chr8:5736061-5736170	MCF-7	breast:	n/a	chr8:5736095-5736108
14	CTCF	chr8:5741893-5741990	Fibrobl	skin:	n/a	n/a
15	CTCF	chr8:5736017-5736218	H1-hESC	embryonic stem cell:	n/a	chr8:5736095-5736108
16	CTCF	chr8:5736007-5736188	LNCaP	prostate:	n/a	chr8:5736095-5736108
17	CTCF	chr8:5736053-5736136	MCF-7	breast:	n/a	chr8:5736095-5736108
18	CTCF	chr8:5730805-5730888	GM13976	blood:	n/a	n/a
19	CTCF	chr8:5744797-5744868	LNCaP	prostate:	n/a	n/a
20	CTCF	chr8:5747040-5747190	WI-38	lung:	n/a	n/a
21	CTCF	chr8:5736027-5736169	MCF-7	breast:	n/a	chr8:5736095-5736108
22	CTCF	chr8:5738260-5738330	GM10266	blood:	n/a	n/a
23	CTCF	chr8:5736051-5736137	MCF-7	breast:	n/a	chr8:5736095-5736108
24	CTCF	chr8:5711303-5711369	Lung_OC	lung:	n/a	n/a
25	CTCF	chr8:5741174-5741198	Lung_OC	lung:	n/a	n/a
26	CTCF	chr8:5740160-5740310	GM12869	blood:	n/a	n/a
27	CTCF	chr8:5736016-5736192	MCF-7	breast:	n/a	chr8:5736095-5736108
28	CTCF	chr8:5744810-5744842	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr8:5736020-5736170	MCF-7	breast:	n/a	chr8:5736095-5736108
30	E2F4	chr8:5723929-5724173	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr8:5751990-5752310	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr8:5736878-5737054	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr8:5723764-5724266	MCF10A-Er-Src	breast:	n/a	chr8:5723936-5723944 chr8:5723935-5723945 chr8:5723935-5723945 chr8:5723937-5723948
34	FOS	chr8:5723749-5724215	MCF10A-Er-Src	breast:	n/a	chr8:5723936-5723944 chr8:5723935-5723945 chr8:5723935-5723945 chr8:5723937-5723948
35	FOS	chr8:5723785-5724166	MCF10A-Er-Src	breast:	n/a	chr8:5723936-5723944 chr8:5723935-5723945 chr8:5723935-5723945 chr8:5723937-5723948
36	FOS	chr8:5736854-5736923	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr8:5723797-5724076	MCF10A-Er-Src	breast:	n/a	chr8:5723936-5723944 chr8:5723935-5723945 chr8:5723935-5723945 chr8:5723937-5723948
38	FOXP2	chr8:5729003-5729350	SK-N-MC	brain:	n/a	chr8:5729098-5729110
39	GATA2	chr8:5750234-5750506	SH-SY5Y	brain:	n/a	n/a
40	GATA2	chr8:5712350-5712527	K562	blood:	n/a	n/a
41	GATA3	chr8:5750211-5750438	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr8:5726008-5726204	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr8:5723896-5724155	SH-SY5Y	brain:	n/a	n/a
44	MAFK	chr8:5697565-5697671	HepG2	liver:	n/a	chr8:5697629-5697640 chr8:5697627-5697641 chr8:5697624-5697639 chr8:5697629-5697640 chr8:5697628-5697639 chr8:5697628-5697639
45	MAFK	chr8:5715591-5715619	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAFK	chr8:5697485-5697778	HepG2	liver:	n/a	chr8:5697629-5697640 chr8:5697627-5697641 chr8:5697624-5697639 chr8:5697629-5697640 chr8:5697628-5697639 chr8:5697628-5697639
47	MAX	chr8:5736010-5736239	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr8:5699771-5699928	NB4	blood:	n/a	chr8:5699792-5699802
49	MAZ	chr8:5742222-5742242	GM12878	blood:	n/a	n/a
50	MAZ	chr8:5706288-5706317	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:5745375..5747333-chr8:5749537..5752235,2	K562	blood:
2	chr8:5707497..5710127-chr8:5711033..5712692,2	K562	blood:
3	chr8:5707497..5710127-chr8:5711033..5712692,2	K562	blood:
4	chr8:5745375..5747333-chr8:5749537..5752235,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-6	chr8:5751155-5751303	XLOC_006982
2	lnc-MCPH1-4	chr8:5706219-5707214	NONHSAT124761
3	lnc-ANGPT2-13	chr8:5703214-5703330	l_3534_chr8:5703213-5738710_testes
4	lnc-ANGPT2-13	chr8:5738563-5738710	l_3534_chr8:5703213-5738710_testes
5	lnc-ANGPT2-6	chr8:5715806-5715922	XLOC_006982

Variant related genes	Relation type
ENSG00000253571	TF binding region

Extended variants
information (count: 474 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557971006	chr8:5699682-5699683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs74861563	chr8:5699685-5699686	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184931806	chr8:5699692-5699693	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555182518	chr8:5699699-5699700	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115629270	chr8:5699704-5699705	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs554464900	chr8:5699720-5699721	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs541049492	chr8:5699728-5699729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs370570762	chr8:5699729-5699730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560745799	chr8:5699730-5699731	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs528026731	chr8:5699732-5699733	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs7814743	chr8:5699736-5699737	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564654825	chr8:5699738-5699739	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189451304	chr8:5699761-5699762	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs566466722	chr8:5699771-5699772	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs11784922	chr8:5699778-5699779	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550213719	chr8:5699781-5699782	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs568235766	chr8:5699799-5699800	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529225656	chr8:5699806-5699807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181042970	chr8:5699820-5699821	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565626834	chr8:5699829-5699830	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs186461889	chr8:5699832-5699833	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs75665259	chr8:5699840-5699841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs201273632	chr8:5699841-5699842	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569794284	chr8:5699854-5699855	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs150240310	chr8:5699857-5699858	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555413827	chr8:5699859-5699860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573808585	chr8:5699879-5699880	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs534585402	chr8:5699881-5699882	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs189716133	chr8:5699903-5699904	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs7813854	chr8:5699904-5699905	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181241779	chr8:5699908-5699909	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs139035245	chr8:5699912-5699913	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs576550630	chr8:5699932-5699933	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs76033587	chr8:5699933-5699934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558038721	chr8:5699944-5699945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs561827820	chr8:5699971-5699972	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142238585	chr8:5699989-5699990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs376763982	chr8:5699992-5699993	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs145529087	chr8:5701707-5701708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs375382442	chr8:5701722-5701723	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs184144723	chr8:5701724-5701725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs10110759	chr8:5701730-5701731	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373411915	chr8:5701734-5701735	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs565430417	chr8:5701747-5701748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs551170945	chr8:5701752-5701753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs377379050	chr8:5701764-5701765	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs532886708	chr8:5701773-5701774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs188894890	chr8:5701777-5701778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs569431233	chr8:5701815-5701816	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs148846923	chr8:5701836-5701837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:128)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5699600-5700000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:5732800-5735400	Weak transcription	Fetal Heart	heart
3	chr8:5735400-5735600	Enhancers	Fetal Heart	heart

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