Variant report

Variant	nsv1023467
Chromosome Location	chr8:115317669-115375829
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	BATF	chr8:115318701-115318964	GM12878	blood:	n/a	chr8:115318871-115318882
4	CEBPB	chr8:115364696-115364815	A549	lung:	n/a	chr8:115364727-115364738 chr8:115364728-115364737 chr8:115364726-115364737 chr8:115364726-115364739
5	CEBPB	chr8:115320971-115321265	IMR90	lung:	n/a	chr8:115321083-115321092 chr8:115321081-115321092
6	CEBPB	chr8:115317512-115317686	HepG2	liver:	n/a	n/a
7	CEBPB	chr8:115361911-115362139	HepG2	liver:	n/a	n/a
8	CEBPB	chr8:115336098-115336490	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr8:115320912-115321273	HepG2	liver:	n/a	chr8:115321083-115321092 chr8:115321081-115321092
10	CEBPB	chr8:115364657-115364877	HepG2	liver:	n/a	chr8:115364727-115364738 chr8:115364728-115364737 chr8:115364726-115364737 chr8:115364726-115364739
11	CEBPB	chr8:115363238-115363247	K562	blood:	n/a	n/a
12	CHD2	chr8:115343589-115343696	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr8:115341549-115341599	GM20000	blood:	n/a	n/a
14	CTCF	chr8:115360785-115360827	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr8:115330540-115330690	HPF	lung:	n/a	n/a
16	CTCF	chr8:115370571-115370644	LNCaP	prostate:	n/a	n/a
17	CTCF	chr8:115340764-115340863	GM20000	blood:	n/a	n/a
18	CTCF	chr8:115357491-115357533	GM10248	blood:	n/a	n/a
19	CUX1	chr8:115332320-115332355	GM12878	blood:	n/a	n/a
20	CUX1	chr8:115355462-115355517	GM12878	blood:	n/a	n/a
21	E2F4	chr8:115355477-115355532	GM12878	blood:	n/a	n/a
22	E2F4	chr8:115338846-115338992	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr8:115320754-115321204	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr8:115347794-115348054	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr8:115352313-115352397	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr8:115336340-115336615	GM12878	blood:	n/a	chr8:115336482-115336493
27	EBF1	chr8:115318461-115318738	GM12878	blood:	n/a	n/a
28	EBF1	chr8:115318487-115318736	GM12878	blood:	n/a	n/a
29	EBF1	chr8:115318417-115319035	GM12878	blood:	n/a	n/a
30	EP300	chr8:115366168-115366279	K562	blood:	n/a	n/a
31	ESR1	chr8:115327261-115327580	ECC-1	luminal epithelium:	n/a	n/a
32	FOXP2	chr8:115355366-115355626	SK-N-MC	brain:	n/a	n/a
33	GABPA	chr8:115333227-115333614	MCF-7	breast:	n/a	n/a
34	HEY1	chr8:115324342-115324549	K562	blood:	n/a	n/a
35	JUN	chr8:115364077-115364081	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUN	chr8:115352310-115352510	K562	blood:	n/a	n/a
37	MAFF	chr8:115355259-115355678	K562	blood:	n/a	chr8:115355422-115355440 chr8:115355428-115355442
38	MAFF	chr8:115330669-115330937	K562	blood:	n/a	chr8:115330800-115330814
39	MAFF	chr8:115332112-115332410	HepG2	liver:	n/a	chr8:115332233-115332251
40	MAFF	chr8:115355238-115355625	HepG2	liver:	n/a	chr8:115355422-115355440 chr8:115355428-115355442
41	MAFF	chr8:115332099-115332382	K562	blood:	n/a	chr8:115332233-115332251
42	MAFF	chr8:115365094-115365123	HepG2	liver:	n/a	chr8:115365103-115365121
43	MAFK	chr8:115355092-115355699	GM12878	blood:	n/a	chr8:115355425-115355445 chr8:115355425-115355436 chr8:115355428-115355442 chr8:115355427-115355443 chr8:115355424-115355439
44	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
45	MAFK	chr8:115355219-115355626	IMR90	lung:	n/a	chr8:115355425-115355445 chr8:115355425-115355436 chr8:115355428-115355442 chr8:115355427-115355443 chr8:115355424-115355439
46	MAFK	chr8:115332140-115332361	K562	blood:	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	chr8:115332181-115332482	Hela-S3	cervix:	n/a	chr8:115332235-115332246 chr8:115332240-115332249 chr8:115332236-115332247 chr8:115332235-115332250 chr8:115332235-115332251 chr8:115332235-115332246 chr8:115332234-115332248
48	MAFK	chr8:115355246-115355619	K562	blood:	n/a	chr8:115355425-115355445 chr8:115355425-115355436 chr8:115355428-115355442 chr8:115355427-115355443 chr8:115355424-115355439
49	MAFK	chr8:115330668-115330937	HepG2	liver:	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
50	MAFK	chr8:115355239-115355620	HepG2	liver:	n/a	chr8:115355425-115355445 chr8:115355425-115355436 chr8:115355428-115355442 chr8:115355427-115355443 chr8:115355424-115355439

No.	Distal block	Cell Line	Cell type
1	chr8:115333482..115335799-chr8:115336000..115338063,2	K562	blood:
2	chr8:115313320..115315368-chr8:115318316..115320811,2	K562	blood:
3	chr8:115360876..115362417-chr8:115396298..115399107,2	K562	blood:
4	chr8:115333482..115335799-chr8:115336000..115338063,2	K562	blood:
5	chr8:115327227..115329633-chr8:115330616..115333275,2	MCF-7	breast:

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

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

Extended variants
information (count: 855 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546817706	chr8:115317720-115317721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186833603	chr8:115317748-115317749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192496022	chr8:115317808-115317809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111559929	chr8:115317837-115317838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569136244	chr8:115317886-115317887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185110015	chr8:115317891-115317892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557790190	chr8:115317921-115317922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535961628	chr8:115317966-115317967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147487863	chr8:115317967-115317968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555698831	chr8:115317975-115317976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187458178	chr8:115317984-115317985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544558047	chr8:115318073-115318074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369358319	chr8:115318115-115318116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192831407	chr8:115318129-115318130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575305143	chr8:115318147-115318148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149615621	chr8:115318212-115318213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564121372	chr8:115318238-115318239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185359934	chr8:115318283-115318284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546780814	chr8:115318285-115318286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144390687	chr8:115318293-115318294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571983342	chr8:115318368-115318369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540988713	chr8:115318370-115318371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148808949	chr8:115318377-115318378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2132787	chr8:115318382-115318383	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569142229	chr8:115318397-115318398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529766233	chr8:115318436-115318437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368922096	chr8:115318473-115318474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189375670	chr8:115318486-115318487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5894193	chr8:115318502-115318503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181402874	chr8:115318509-115318510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557606767	chr8:115318528-115318529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566593705	chr8:115318556-115318557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74713282	chr8:115318610-115318611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555860193	chr8:115318619-115318620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574151122	chr8:115318631-115318632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375711030	chr8:115318706-115318707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143151114	chr8:115318728-115318729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28883315	chr8:115318820-115318821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs578250261	chr8:115318876-115318877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571892708	chr8:115318896-115318897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183592163	chr8:115318934-115318935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533955217	chr8:115318946-115318947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564084756	chr8:115318966-115318967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368386003	chr8:115318967-115318968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111880174	chr8:115318987-115318988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561867854	chr8:115318993-115318994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529069244	chr8:115319028-115319029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373980598	chr8:115319039-115319040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550755507	chr8:115319050-115319051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7003601	chr8:115319086-115319087	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115302000-115318600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:115304000-115318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:115308400-115318600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:115308400-115318800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:115318200-115319200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:115318600-115319000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:115318600-115319200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:115318600-115319200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:115318800-115319200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:115319200-115323200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:115323200-115323600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:115323200-115323600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:115323200-115323600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr8:115323600-115324000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:115324400-115324800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:115334800-115335000	Enhancers	Hela-S3	cervix
17	chr8:115334800-115337000	Enhancers	Dnd41	blood
18	chr8:115335000-115335400	Enhancers	GM12878-XiMat	blood
19	chr8:115335000-115338600	Weak transcription	Hela-S3	cervix
20	chr8:115336000-115336800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:115341600-115342000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:115349600-115350200	Enhancers	Fetal Lung	lung
23	chr8:115350200-115355400	Weak transcription	Fetal Lung	lung
24	chr8:115354400-115355800	Active TSS	Brain Anterior Caudate	brain
25	chr8:115355400-115355600	Enhancers	Fetal Lung	lung
26	chr8:115370200-115371200	Enhancers	Adipose Nuclei	Adipose
27	chr8:115370800-115371200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:115370800-115371400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:115372800-115373400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links