Variant report

Variant	nsv891159
Chromosome Location	chr8:87824751-87876114
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	CBX3	chr8:87840515-87841121	HCT-116	colon:	n/a	n/a
2	CBX3	chr8:87840524-87841080	HCT-116	colon:	n/a	n/a
3	CEBPB	chr8:87838953-87839146	K562	blood:	n/a	chr8:87839091-87839102
4	CEBPB	chr8:87840754-87840985	IMR90	lung:	n/a	n/a
5	CEBPB	chr8:87838961-87839254	H1-hESC	embryonic stem cell:	n/a	chr8:87839091-87839102
6	CEBPB	chr8:87840532-87841184	HCT-116	colon:	n/a	n/a
7	CEBPB	chr8:87838943-87839275	A549	lung:	n/a	chr8:87839091-87839102
8	CEBPB	chr8:87840726-87840985	HepG2	liver:	n/a	n/a
9	CEBPB	chr8:87838928-87839263	HepG2	liver:	n/a	chr8:87839091-87839102
10	CEBPB	chr8:87840696-87841015	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr8:87840497-87841228	HCT-116	colon:	n/a	n/a
12	CEBPB	chr8:87837286-87837489	HepG2	liver:	n/a	chr8:87837420-87837431
13	CHD2	chr8:87834600-87834682	HepG2	liver:	n/a	n/a
14	CHD2	chr8:87834589-87834663	GM12878	blood:	n/a	n/a
15	CHD2	chr8:87834498-87834786	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr8:87841711-87841764	Lung_OC	lung:	n/a	n/a
17	CTCF	chr8:87873980-87874130	HRE	kidney:	n/a	n/a
18	CTCF	chr8:87846440-87846590	MCF-7	breast:	n/a	n/a
19	CTCF	chr8:87852350-87852378	GM10248	blood:	n/a	n/a
20	CTCF	chr8:87843740-87843890	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:87857455-87857487	GM20000	blood:	n/a	n/a
22	E2F4	chr8:87851301-87851304	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr8:87849437-87850202	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr8:87840826-87841052	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr8:87843011-87843234	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr8:87853469-87853789	MCF10A-Er-Src	breast:	n/a	n/a
27	ELF1	chr8:87840482-87841025	HCT-116	colon:	n/a	n/a
28	EP300	chr8:87840727-87840918	Hela-S3	cervix:	n/a	n/a
29	ESR1	chr8:87848907-87849306	ECC-1	luminal epithelium:	n/a	n/a
30	FAM48A	chr8:87868351-87868461	GM12878	blood:	n/a	n/a
31	FOS	chr8:87849839-87850039	MCF10A-Er-Src	breast:	n/a	chr8:87849901-87849911 chr8:87849902-87849910 chr8:87849903-87849910 chr8:87849901-87849911 chr8:87849901-87849911 chr8:87849902-87849910 chr8:87849901-87849911
32	FOS	chr8:87840525-87841023	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr8:87840456-87841129	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr8:87849831-87850048	MCF10A-Er-Src	breast:	n/a	chr8:87849901-87849911 chr8:87849902-87849910 chr8:87849903-87849910 chr8:87849901-87849911 chr8:87849901-87849911 chr8:87849902-87849910 chr8:87849901-87849911
35	FOS	chr8:87840470-87841153	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr8:87840416-87841085	MCF10A-Er-Src	breast:	n/a	n/a
37	FOSL1	chr8:87840480-87841134	HCT-116	colon:	n/a	n/a
38	FOSL1	chr8:87840433-87841112	HCT-116	colon:	n/a	n/a
39	FOSL2	chr8:87840672-87840847	HepG2	liver:	n/a	n/a
40	GATA3	chr8:87875034-87875197	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr8:87830333-87830500	SH-SY5Y	brain:	n/a	n/a
42	GTF2F1	chr8:87847014-87847024	H1-hESC	embryonic stem cell:	n/a	n/a
43	JUN	chr8:87840741-87840892	HepG2	liver:	n/a	n/a
44	JUN	chr8:87830633-87830710	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr8:87840480-87841181	HCT-116	colon:	n/a	n/a
46	JUND	chr8:87840674-87840860	HepG2	liver:	n/a	n/a
47	JUND	chr8:87840519-87841087	HCT-116	colon:	n/a	n/a
48	JUND	chr8:87857093-87857118	HepG2	liver:	n/a	n/a
49	MAFF	chr8:87847625-87847912	HepG2	liver:	n/a	chr8:87847780-87847798
50	MAFF	chr8:87829724-87829794	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87837203..87839176-chr8:87839334..87842180,2	MCF-7	breast:
2	chr8:87869846..87871610-chr8:87873997..87877592,3	MCF-7	breast:
3	chr8:87869846..87871610-chr8:87873997..87877592,3	MCF-7	breast:
4	chr8:87860557..87863076-chr8:87867537..87869948,2	MCF-7	breast:
5	chr8:87860557..87863076-chr8:87867537..87869948,2	MCF-7	breast:
6	chr8:87837203..87839176-chr8:87839334..87842180,2	MCF-7	breast:
7	chr8:87874326..87875991-chr8:87880383..87883239,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNBD1-1	chr8:87830671-87830786	ENSG00000253778
2	lnc-CNBD1-1	chr8:87827462-87827545	ENSG00000253778
3	lnc-CNBD1-1	chr8:87828741-87828852	ENSG00000253778

Variant related genes	Relation type
CNBD1	TF binding region

Extended variants
information (count: 225 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189490570	chr8:87827477-87827478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs577526139	chr8:87827485-87827486	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs538633068	chr8:87827529-87827530	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs150171262	chr8:87828752-87828753	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs576109870	chr8:87828809-87828810	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs114155833	chr8:87828825-87828826	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs182211746	chr8:87830019-87830020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575563790	chr8:87830052-87830053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546236725	chr8:87830068-87830069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564425234	chr8:87830074-87830075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377323055	chr8:87830182-87830183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11774464	chr8:87830211-87830212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540867159	chr8:87830256-87830257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114801046	chr8:87830303-87830304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529639784	chr8:87830311-87830312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551010466	chr8:87830319-87830320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78686499	chr8:87830325-87830326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573948472	chr8:87830333-87830334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544597096	chr8:87830341-87830342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572366879	chr8:87830371-87830372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552205132	chr8:87830381-87830382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562601387	chr8:87830393-87830394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs36027054	chr8:87830424-87830425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533264435	chr8:87830471-87830472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78440313	chr8:87830491-87830492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13251546	chr8:87830503-87830504	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567992932	chr8:87830516-87830517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72691886	chr8:87830623-87830624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556984085	chr8:87830669-87830670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13255314	chr8:87830762-87830763	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530287584	chr8:87832060-87832061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556510718	chr8:87832132-87832133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574284225	chr8:87832210-87832211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578142466	chr8:87832215-87832216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545344463	chr8:87832236-87832237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548376360	chr8:87832273-87832274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544244736	chr8:87832348-87832349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146332075	chr8:87832388-87832389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572500647	chr8:87832444-87832445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139282000	chr8:87832561-87832562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556158726	chr8:87832632-87832633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561428791	chr8:87832638-87832639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376307661	chr8:87832667-87832668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577641153	chr8:87832668-87832669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79789439	chr8:87832680-87832681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562508794	chr8:87832702-87832703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537960072	chr8:87832727-87832728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185152748	chr8:87832747-87832748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374032567	chr8:87832772-87832773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551657020	chr8:87832773-87832774	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Colorectal cancer	21645411	CNVD
Prostate cancer	20978177	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87830000-87830800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:87832000-87832400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:87832000-87834000	Enhancers	Fetal Brain Female	brain
4	chr8:87840200-87841400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:87840400-87841200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:87840800-87841200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:87854400-87854800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:87854400-87854800	Active TSS	Liver	Liver
9	chr8:87854400-87854800	Active TSS	Brain Substantia Nigra	brain
10	chr8:87854400-87855000	Active TSS	Brain Hippocampus Middle	brain
11	chr8:87854800-87855200	Active TSS	Brain Cingulate Gyrus	brain
12	chr8:87868400-87868800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:87868400-87869200	Enhancers	HUES6 Cell Line	embryonic stem cell

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