Variant report

Variant	nsv539727
Chromosome Location	chr8:115322822-115367819
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	chr8:115332200-115332247	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr8:115330646-115330834	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr8:115336098-115336490	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:115361911-115362139	HepG2	liver:	n/a	n/a
5	CEBPB	chr8:115364696-115364815	A549	lung:	n/a	chr8:115364727-115364738 chr8:115364728-115364737 chr8:115364726-115364737 chr8:115364726-115364739
6	CEBPB	chr8:115364657-115364877	HepG2	liver:	n/a	chr8:115364727-115364738 chr8:115364728-115364737 chr8:115364726-115364737 chr8:115364726-115364739
7	CEBPB	chr8:115363238-115363247	K562	blood:	n/a	n/a
8	CHD2	chr8:115343589-115343696	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr8:115330540-115330690	HPF	lung:	n/a	n/a
10	CTCF	chr8:115357491-115357533	GM10248	blood:	n/a	n/a
11	CTCF	chr8:115341549-115341599	GM20000	blood:	n/a	n/a
12	CTCF	chr8:115340764-115340863	GM20000	blood:	n/a	n/a
13	CTCF	chr8:115360785-115360827	Kidney_OC	kidney:	n/a	n/a
14	CUX1	chr8:115355462-115355517	GM12878	blood:	n/a	n/a
15	CUX1	chr8:115332320-115332355	GM12878	blood:	n/a	n/a
16	E2F4	chr8:115347794-115348054	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr8:115355477-115355532	GM12878	blood:	n/a	n/a
18	E2F4	chr8:115338846-115338992	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr8:115352313-115352397	MCF10A-Er-Src	breast:	n/a	n/a
20	EBF1	chr8:115336340-115336615	GM12878	blood:	n/a	chr8:115336482-115336493
21	EP300	chr8:115366168-115366279	K562	blood:	n/a	n/a
22	ESR1	chr8:115327261-115327580	ECC-1	luminal epithelium:	n/a	n/a
23	FOXP2	chr8:115355366-115355626	SK-N-MC	brain:	n/a	n/a
24	GABPA	chr8:115333227-115333614	MCF-7	breast:	n/a	n/a
25	HEY1	chr8:115324342-115324549	K562	blood:	n/a	n/a
26	JUN	chr8:115352310-115352510	K562	blood:	n/a	n/a
27	JUN	chr8:115364077-115364081	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFF	chr8:115332099-115332382	K562	blood:	n/a	chr8:115332233-115332251
29	MAFF	chr8:115332112-115332410	HepG2	liver:	n/a	chr8:115332233-115332251
30	MAFF	chr8:115330669-115330937	K562	blood:	n/a	chr8:115330800-115330814
31	MAFF	chr8:115355238-115355625	HepG2	liver:	n/a	chr8:115355422-115355440 chr8:115355428-115355442
32	MAFF	chr8:115355259-115355678	K562	blood:	n/a	chr8:115355422-115355440 chr8:115355428-115355442
33	MAFF	chr8:115365094-115365123	HepG2	liver:	n/a	chr8:115365103-115365121
34	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
35	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
36	MAFK	chr8:115332124-115332398	IMR90	lung:	n/a	chr8:115332235-115332246 chr8:115332240-115332249 chr8:115332236-115332247 chr8:115332235-115332250 chr8:115332235-115332251 chr8:115332235-115332246 chr8:115332234-115332248
37	MAFK	chr8:115330642-115330938	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
38	MAFK	chr8:115343490-115343584	HepG2	liver:	n/a	n/a
39	MAFK	chr8:115328883-115329075	HepG2	liver:	n/a	chr8:115328941-115328952
40	MAFK	chr8:115355262-115355598	H1-hESC	embryonic stem cell:	n/a	chr8:115355425-115355445 chr8:115355425-115355436 chr8:115355428-115355442 chr8:115355427-115355443 chr8:115355424-115355439
41	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
42	MAFK	chr8:115333626-115333776	HepG2	liver:	n/a	chr8:115333719-115333733 chr8:115333716-115333731 chr8:115333720-115333731 chr8:115333716-115333732 chr8:115333721-115333732 chr8:115333721-115333732
43	MAFK	chr8:115332094-115332418	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
44	MAFK	chr8:115355092-115355699	GM12878	blood:	n/a	chr8:115355425-115355445 chr8:115355425-115355436 chr8:115355428-115355442 chr8:115355427-115355443 chr8:115355424-115355439
45	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
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	chr8:115355239-115355620	HepG2	liver:	n/a	chr8:115355425-115355445 chr8:115355425-115355436 chr8:115355428-115355442 chr8:115355427-115355443 chr8:115355424-115355439
49	MAFK	chr8:115355219-115355626	IMR90	lung:	n/a	chr8:115355425-115355445 chr8:115355425-115355436 chr8:115355428-115355442 chr8:115355427-115355443 chr8:115355424-115355439
50	MAFK	chr8:115355249-115355637	Hela-S3	cervix:	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	chr8:115333482..115335799-chr8:115336000..115338063,2	K562	blood:
3	chr8:115327227..115329633-chr8:115330616..115333275,2	MCF-7	breast:
4	chr8:115360876..115362417-chr8:115396298..115399107,2	K562	blood:

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: 623 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:623 , 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	rs147015540	chr8:115322844-115322845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182437215	chr8:115322845-115322846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147867981	chr8:115322940-115322941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577299997	chr8:115322991-115322992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544555137	chr8:115322998-115322999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554898442	chr8:115323001-115323002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186727325	chr8:115323022-115323023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77901488	chr8:115323030-115323031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558152263	chr8:115323063-115323064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563718584	chr8:115323182-115323183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141554016	chr8:115323304-115323305	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546088071	chr8:115323312-115323313	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs564483192	chr8:115323323-115323324	Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs531942661	chr8:115323353-115323354	Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs574511453	chr8:115323379-115323380	Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs565740487	chr8:115323478-115323479	Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs529767152	chr8:115323479-115323480	Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs369382058	chr8:115323515-115323516	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs572211639	chr8:115323601-115323602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs72613905	chr8:115323602-115323603	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs143685520	chr8:115323606-115323607	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs77489834	chr8:115323613-115323614	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs78559646	chr8:115323624-115323625	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs75374370	chr8:115323639-115323640	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77175233	chr8:115323646-115323647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569862427	chr8:115323647-115323648	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547764500	chr8:115323660-115323661	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs78283837	chr8:115323665-115323666	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs74909559	chr8:115323668-115323669	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs80009583	chr8:115323669-115323670	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs79446410	chr8:115323675-115323676	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs537282509	chr8:115323681-115323682	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148126746	chr8:115323685-115323686	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs570761191	chr8:115323694-115323695	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs76680748	chr8:115323702-115323703	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs75325290	chr8:115323773-115323774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs74780278	chr8:115323780-115323781	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs13439875	chr8:115323889-115323890	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553105316	chr8:115323924-115323925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541938659	chr8:115323976-115323977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs374291872	chr8:115323978-115323979	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs568362259	chr8:115324403-115324404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535886131	chr8:115324422-115324423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs10113768	chr8:115324431-115324432	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182092273	chr8:115324448-115324449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs569821964	chr8:115324453-115324454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112135547	chr8:115324486-115324487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs186111736	chr8:115324489-115324490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs78762630	chr8:115324570-115324571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs10100905	chr8:115324581-115324582	ZNF genes & repeats	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:16 , 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

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