Variant report

Variant	nsv890010
Chromosome Location	chr8:5668821-5755611
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	BRCA1	chr8:5754693-5754799	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr8:5743105-5743392	K562	blood:	n/a	chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249
3	CEBPB	chr8:5743074-5743414	IMR90	lung:	n/a	chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249
4	CEBPB	chr8:5731815-5732103	A549	lung:	n/a	chr8:5731971-5731982
5	CEBPB	chr8:5743087-5743365	A549	lung:	n/a	chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249
6	CEBPB	chr8:5743077-5743413	HepG2	liver:	n/a	chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249
7	CEBPB	chr8:5731799-5732146	HepG2	liver:	n/a	chr8:5731971-5731982
8	CEBPB	chr8:5731871-5732051	K562	blood:	n/a	chr8:5731971-5731982
9	CEBPB	chr8:5710994-5711190	HepG2	liver:	n/a	chr8:5711068-5711079
10	CEBPB	chr8:5743115-5743330	H1-hESC	embryonic stem cell:	n/a	chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249
11	CEBPB	chr8:5750468-5750687	HepG2	liver:	n/a	n/a
12	CEBPB	chr8:5731891-5732130	IMR90	lung:	n/a	chr8:5731971-5731982
13	CEBPB	chr8:5731829-5732132	H1-hESC	embryonic stem cell:	n/a	chr8:5731971-5731982
14	CTCF	chr8:5736027-5736169	MCF-7	breast:	n/a	chr8:5736095-5736108
15	CTCF	chr8:5730805-5730888	GM13976	blood:	n/a	n/a
16	CTCF	chr8:5736061-5736170	MCF-7	breast:	n/a	chr8:5736095-5736108
17	CTCF	chr8:5691640-5691790	HEK293	kidney:	n/a	n/a
18	CTCF	chr8:5736053-5736136	MCF-7	breast:	n/a	chr8:5736095-5736108
19	CTCF	chr8:5741893-5741990	Fibrobl	skin:	n/a	n/a
20	CTCF	chr8:5711303-5711369	Lung_OC	lung:	n/a	n/a
21	CTCF	chr8:5744810-5744842	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr8:5681765-5681786	GM13976	blood:	n/a	n/a
23	CTCF	chr8:5747040-5747190	WI-38	lung:	n/a	n/a
24	CTCF	chr8:5740160-5740310	GM12869	blood:	n/a	n/a
25	CTCF	chr8:5736007-5736188	LNCaP	prostate:	n/a	chr8:5736095-5736108
26	CTCF	chr8:5738260-5738330	GM10266	blood:	n/a	n/a
27	CTCF	chr8:5741174-5741198	Lung_OC	lung:	n/a	n/a
28	CTCF	chr8:5736020-5736170	MCF-7	breast:	n/a	chr8:5736095-5736108
29	CTCF	chr8:5691560-5691710	GM12871	blood:	n/a	n/a
30	CTCF	chr8:5691640-5691790	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr8:5736017-5736218	H1-hESC	embryonic stem cell:	n/a	chr8:5736095-5736108
32	CTCF	chr8:5744797-5744868	LNCaP	prostate:	n/a	n/a
33	CTCF	chr8:5736051-5736137	MCF-7	breast:	n/a	chr8:5736095-5736108
34	CTCF	chr8:5736016-5736192	MCF-7	breast:	n/a	chr8:5736095-5736108
35	CTCF	chr8:5691636-5691642	GM10248	blood:	n/a	n/a
36	E2F4	chr8:5751990-5752310	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr8:5723929-5724173	MCF10A-Er-Src	breast:	n/a	n/a
38	FAM48A	chr8:5674611-5674767	GM12878	blood:	n/a	n/a
39	FOS	chr8:5723785-5724166	MCF10A-Er-Src	breast:	n/a	chr8:5723936-5723944 chr8:5723935-5723945 chr8:5723935-5723945 chr8:5723937-5723948
40	FOS	chr8:5723749-5724215	MCF10A-Er-Src	breast:	n/a	chr8:5723936-5723944 chr8:5723935-5723945 chr8:5723935-5723945 chr8:5723937-5723948
41	FOS	chr8:5723764-5724266	MCF10A-Er-Src	breast:	n/a	chr8:5723936-5723944 chr8:5723935-5723945 chr8:5723935-5723945 chr8:5723937-5723948
42	FOS	chr8:5736854-5736923	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr8:5723797-5724076	MCF10A-Er-Src	breast:	n/a	chr8:5723936-5723944 chr8:5723935-5723945 chr8:5723935-5723945 chr8:5723937-5723948
44	FOS	chr8:5736878-5737054	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr8:5690886-5690975	MCF10A-Er-Src	breast:	n/a	n/a
46	FOSL2	chr8:5688284-5688529	HepG2	liver:	n/a	n/a
47	FOXP2	chr8:5729003-5729350	SK-N-MC	brain:	n/a	chr8:5729098-5729110
48	GATA2	chr8:5750234-5750506	SH-SY5Y	brain:	n/a	n/a
49	GATA2	chr8:5712350-5712527	K562	blood:	n/a	n/a
50	GATA3	chr8:5726008-5726204	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:5653098..5655133-chr8:5666888..5669291,2	MCF-7	breast:
2	chr8:5745375..5747333-chr8:5749537..5752235,2	K562	blood:
3	chr8:5707497..5710127-chr8:5711033..5712692,2	K562	blood:
4	chr8:5707497..5710127-chr8:5711033..5712692,2	K562	blood:
5	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-ANGPT2-6	chr8:5715806-5715922	XLOC_006982
3	lnc-ANGPT2-13	chr8:5738563-5738710	l_3534_chr8:5703213-5738710_testes
4	lnc-ANGPT2-13	chr8:5703214-5703330	l_3534_chr8:5703213-5738710_testes
5	lnc-MCPH1-4	chr8:5706219-5707214	NONHSAT124761

Variant related genes	Relation type
ENSG00000253571	TF binding region

Extended variants
information (count: 632 )
Associated
traits (count: 129 )

Variant overlapped rSNPs/rCNVs (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192091261	chr8:5674435-5674436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558350922	chr8:5674439-5674440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536517796	chr8:5674457-5674458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145482484	chr8:5674486-5674487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184636288	chr8:5674502-5674503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541947724	chr8:5674505-5674506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138020062	chr8:5674535-5674536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1355665	chr8:5674540-5674541	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531163971	chr8:5674547-5674548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1355666	chr8:5674551-5674552	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1355667	chr8:5674575-5674576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556253930	chr8:5674581-5674582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574789990	chr8:5674602-5674603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189163055	chr8:5674613-5674614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79565829	chr8:5674648-5674649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141155283	chr8:5674657-5674658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547271254	chr8:5674676-5674677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546062903	chr8:5674698-5674699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150169080	chr8:5674722-5674723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531263155	chr8:5674732-5674733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549871039	chr8:5674736-5674737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543036842	chr8:5674737-5674738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567930753	chr8:5674804-5674805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193035570	chr8:5674813-5674814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566921540	chr8:5674815-5674816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17074910	chr8:5674826-5674827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566862698	chr8:5674860-5674861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138619043	chr8:5674868-5674869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552304553	chr8:5674869-5674870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570730307	chr8:5674874-5674875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537916242	chr8:5674885-5674886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2221891	chr8:5674900-5674901	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574722354	chr8:5674902-5674903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535892163	chr8:5674934-5674935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185727224	chr8:5674941-5674942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572329360	chr8:5674947-5674948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538301097	chr8:5674952-5674953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556745473	chr8:5674960-5674961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546123690	chr8:5674961-5674962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80013971	chr8:5674963-5674964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188987508	chr8:5674967-5674968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370873885	chr8:5674972-5674973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377681243	chr8:5674973-5674974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561867939	chr8:5674974-5674975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545287817	chr8:5675001-5675002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546947692	chr8:5675040-5675041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373354085	chr8:5675085-5675086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11348561	chr8:5675086-5675087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74762608	chr8:5675102-5675103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs63374261	chr8:5675104-5675105	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:129)

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
Schizophrenia	23813976	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5674400-5675400	Enhancers	Dnd41	blood
2	chr8:5687800-5688400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:5699600-5700000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:5732800-5735400	Weak transcription	Fetal Heart	heart
5	chr8:5735400-5735600	Enhancers	Fetal Heart	heart
6	chr8:5755000-5755400	Active TSS	Hela-S3	cervix

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