Variant report

Variant	nsv521163
Chromosome Location	chr8:115320834-115395451
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	BACH1	chr8:115330646-115330834	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr8:115332200-115332247	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr8:115361911-115362139	HepG2	liver:	n/a	n/a
4	CEBPB	chr8:115336098-115336490	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr8:115364657-115364877	HepG2	liver:	n/a	chr8:115364727-115364738 chr8:115364728-115364737 chr8:115364726-115364737 chr8:115364726-115364739
6	CEBPB	chr8:115363238-115363247	K562	blood:	n/a	n/a
7	CEBPB	chr8:115320912-115321273	HepG2	liver:	n/a	chr8:115321083-115321092 chr8:115321081-115321092
8	CEBPB	chr8:115320971-115321265	IMR90	lung:	n/a	chr8:115321083-115321092 chr8:115321081-115321092
9	CEBPB	chr8:115364696-115364815	A549	lung:	n/a	chr8:115364727-115364738 chr8:115364728-115364737 chr8:115364726-115364737 chr8:115364726-115364739
10	CHD2	chr8:115343589-115343696	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr8:115330540-115330690	HPF	lung:	n/a	n/a
12	CTCF	chr8:115341549-115341599	GM20000	blood:	n/a	n/a
13	CTCF	chr8:115340764-115340863	GM20000	blood:	n/a	n/a
14	CTCF	chr8:115370571-115370644	LNCaP	prostate:	n/a	n/a
15	CTCF	chr8:115386660-115386810	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr8:115357491-115357533	GM10248	blood:	n/a	n/a
17	CTCF	chr8:115360785-115360827	Kidney_OC	kidney:	n/a	n/a
18	CUX1	chr8:115332320-115332355	GM12878	blood:	n/a	n/a
19	CUX1	chr8:115355462-115355517	GM12878	blood:	n/a	n/a
20	E2F4	chr8:115320754-115321204	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr8:115347794-115348054	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr8:115376729-115376846	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr8:115352313-115352397	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr8:115355477-115355532	GM12878	blood:	n/a	n/a
25	E2F4	chr8:115338846-115338992	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr8:115336340-115336615	GM12878	blood:	n/a	chr8:115336482-115336493
27	EP300	chr8:115366168-115366279	K562	blood:	n/a	n/a
28	ESR1	chr8:115327261-115327580	ECC-1	luminal epithelium:	n/a	n/a
29	FOS	chr8:115388038-115388048	MCF10A-Er-Src	breast:	n/a	n/a
30	FOXP2	chr8:115355366-115355626	SK-N-MC	brain:	n/a	n/a
31	GABPA	chr8:115333227-115333614	MCF-7	breast:	n/a	n/a
32	GATA3	chr8:115381908-115382378	MCF-7	breast:	n/a	n/a
33	HEY1	chr8:115324342-115324549	K562	blood:	n/a	n/a
34	JUN	chr8:115352310-115352510	K562	blood:	n/a	n/a
35	JUN	chr8:115364077-115364081	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAFF	chr8:115355238-115355625	HepG2	liver:	n/a	chr8:115355422-115355440 chr8:115355428-115355442
37	MAFF	chr8:115355259-115355678	K562	blood:	n/a	chr8:115355422-115355440 chr8:115355428-115355442
38	MAFF	chr8:115365094-115365123	HepG2	liver:	n/a	chr8:115365103-115365121
39	MAFF	chr8:115332099-115332382	K562	blood:	n/a	chr8:115332233-115332251
40	MAFF	chr8:115332112-115332410	HepG2	liver:	n/a	chr8:115332233-115332251
41	MAFF	chr8:115330669-115330937	K562	blood:	n/a	chr8:115330800-115330814
42	MAFK	chr8:115355092-115355699	GM12878	blood:	n/a	chr8:115355425-115355445 chr8:115355425-115355436 chr8:115355428-115355442 chr8:115355427-115355443 chr8:115355424-115355439
43	MAFK	chr8:115355239-115355620	HepG2	liver:	n/a	chr8:115355425-115355445 chr8:115355425-115355436 chr8:115355428-115355442 chr8:115355427-115355443 chr8:115355424-115355439
44	MAFK	chr8:115328883-115329075	HepG2	liver:	n/a	chr8:115328941-115328952
45	MAFK	chr8:115355246-115355619	K562	blood:	n/a	chr8:115355425-115355445 chr8:115355425-115355436 chr8:115355428-115355442 chr8:115355427-115355443 chr8:115355424-115355439
46	MAFK	chr8:115332103-115332409	HepG2	liver:	n/a	chr8:115332235-115332246 chr8:115332240-115332249 chr8:115332236-115332247 chr8:115332235-115332250 chr8:115332235-115332251 chr8:115332235-115332246 chr8:115332234-115332248
47	MAFK	chr8:115330775-115330850	K562	blood:	n/a	chr8:115330796-115330807 chr8:115330796-115330807 chr8:115330801-115330810 chr8:115330796-115330812 chr8:115330797-115330808 chr8:115330796-115330811 chr8:115330795-115330809 chr8:115330797-115330808
48	MAFK	chr8:115355249-115355637	Hela-S3	cervix:	n/a	chr8:115355425-115355445 chr8:115355425-115355436 chr8:115355428-115355442 chr8:115355427-115355443 chr8:115355424-115355439
49	MAFK	chr8:115343490-115343584	HepG2	liver:	n/a	n/a
50	MAFK	chr8:115333664-115333775	HepG2	liver:	n/a	chr8:115333719-115333733 chr8:115333716-115333731 chr8:115333720-115333731 chr8:115333716-115333732 chr8:115333721-115333732 chr8:115333721-115333732

No.	Distal block	Cell Line	Cell type
1	chr8:115327227..115329633-chr8:115330616..115333275,2	MCF-7	breast:
2	chr8:115333482..115335799-chr8:115336000..115338063,2	K562	blood:
3	chr8:115360876..115362417-chr8:115396298..115399107,2	K562	blood:
4	chr8:115333482..115335799-chr8:115336000..115338063,2	K562	blood:
5	chr8:115392553..115395092-chr8:115402142..115404171,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD3-1	chr8:115323322-115323497	XLOC_007184
2	lnc-CSMD3-6	chr8:115330629-115331140	NONHSAT128358

Variant related genes	Relation type
ENSG00000253499	TF binding region
ENSG00000253499	chromatin interactions
MAGT1	miRNA target sites

Extended variants
information (count: 834 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10808467	chr8:115320834-115320835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73354946	chr8:115320870-115320871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544275588	chr8:115320926-115320927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555889273	chr8:115320973-115320974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182341719	chr8:115320996-115320997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544815120	chr8:115321083-115321084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559972065	chr8:115321089-115321090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554561349	chr8:115321092-115321093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574474716	chr8:115321095-115321096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529703304	chr8:115321102-115321103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542619910	chr8:115321142-115321143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561318447	chr8:115321146-115321147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187776732	chr8:115321147-115321148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139107352	chr8:115321181-115321182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565418381	chr8:115321185-115321186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12677904	chr8:115321191-115321192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548032618	chr8:115321200-115321201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566208837	chr8:115321203-115321204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144019450	chr8:115321204-115321205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377034511	chr8:115321205-115321206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193253666	chr8:115321217-115321218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545548794	chr8:115321321-115321322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567252006	chr8:115321329-115321330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537485821	chr8:115321367-115321368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555801533	chr8:115321431-115321432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368799900	chr8:115321511-115321512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73354947	chr8:115321515-115321516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150957515	chr8:115321540-115321541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140826973	chr8:115321583-115321584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547763849	chr8:115321610-115321611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149729631	chr8:115321628-115321629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550322768	chr8:115321696-115321697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561073039	chr8:115321758-115321759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567370142	chr8:115321768-115321769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184999500	chr8:115321786-115321787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6997580	chr8:115321807-115321808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs543847421	chr8:115321833-115321834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188817832	chr8:115321867-115321868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532668596	chr8:115321874-115321875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575741214	chr8:115321886-115321887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192693359	chr8:115321905-115321906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539157690	chr8:115321941-115321942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34843944	chr8:115321969-115321970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184090120	chr8:115322003-115322004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11775426	chr8:115322031-115322032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs201217626	chr8:115322050-115322051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77456095	chr8:115322083-115322084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549391199	chr8:115322127-115322128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570972179	chr8:115322153-115322154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538328695	chr8:115322155-115322156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115319200-115323200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:115323200-115323600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:115323200-115323600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:115323200-115323600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:115323600-115324000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:115324400-115324800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:115334800-115335000	Enhancers	Hela-S3	cervix
8	chr8:115334800-115337000	Enhancers	Dnd41	blood
9	chr8:115335000-115335400	Enhancers	GM12878-XiMat	blood
10	chr8:115335000-115338600	Weak transcription	Hela-S3	cervix
11	chr8:115336000-115336800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:115341600-115342000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:115349600-115350200	Enhancers	Fetal Lung	lung
14	chr8:115350200-115355400	Weak transcription	Fetal Lung	lung
15	chr8:115354400-115355800	Active TSS	Brain Anterior Caudate	brain
16	chr8:115355400-115355600	Enhancers	Fetal Lung	lung
17	chr8:115370200-115371200	Enhancers	Adipose Nuclei	Adipose
18	chr8:115370800-115371200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:115370800-115371400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:115372800-115373400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:115381200-115382600	Enhancers	Hela-S3	cervix
22	chr8:115385400-115385600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:115395200-115396000	Enhancers	H9 Cell Line	embryonic stem cell

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