Variant report

Variant	nsv1030749
Chromosome Location	chr8:63114461-63156246
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	BCL3	chr8:63146882-63147588	A549	lung:	n/a	n/a
2	CEBPB	chr8:63146936-63147637	A549	lung:	n/a	n/a
3	CTCF	chr8:63146960-63147110	A549	lung:	n/a	chr8:63147053-63147062
4	CUX1	chr8:63134175-63134185	GM12878	blood:	n/a	n/a
5	E2F4	chr8:63130322-63130514	MCF10A-Er-Src	breast:	n/a	n/a
6	EBF1	chr8:63127732-63128034	GM12878	blood:	n/a	chr8:63127918-63127929
7	EBF1	chr8:63130347-63130516	GM12878	blood:	n/a	n/a
8	EBF1	chr8:63127372-63127417	GM12878	blood:	n/a	n/a
9	EBF1	chr8:63127712-63128110	GM12878	blood:	n/a	chr8:63127918-63127929
10	EP300	chr8:63146881-63147709	A549	lung:	n/a	chr8:63146966-63146980 chr8:63146961-63146975
11	EP300	chr8:63146838-63147783	A549	lung:	n/a	chr8:63146966-63146980 chr8:63146961-63146975
12	FAM48A	chr8:63145339-63145463	GM12878	blood:	n/a	n/a
13	FOS	chr8:63143471-63143815	MCF10A-Er-Src	breast:	n/a	chr8:63143636-63143644 chr8:63143635-63143645 chr8:63143637-63143644 chr8:63143635-63143644 chr8:63143634-63143646 chr8:63143636-63143645
14	FOS	chr8:63143469-63143814	MCF10A-Er-Src	breast:	n/a	chr8:63143636-63143644 chr8:63143635-63143645 chr8:63143637-63143644 chr8:63143635-63143644 chr8:63143634-63143646 chr8:63143636-63143645
15	FOS	chr8:63146991-63147548	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr8:63146966-63147303	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr8:63150559-63150766	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr8:63143477-63143812	MCF10A-Er-Src	breast:	n/a	chr8:63143636-63143644 chr8:63143635-63143645 chr8:63143637-63143644 chr8:63143635-63143644 chr8:63143634-63143646 chr8:63143636-63143645
19	FOS	chr8:63146903-63147645	MCF10A-Er-Src	breast:	n/a	chr8:63147611-63147621
20	FOS	chr8:63150570-63150770	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr8:63143486-63143807	MCF10A-Er-Src	breast:	n/a	chr8:63143636-63143644 chr8:63143635-63143645 chr8:63143637-63143644 chr8:63143635-63143644 chr8:63143634-63143646 chr8:63143636-63143645
22	FOS	chr8:63150507-63150777	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr8:63146939-63147637	MCF10A-Er-Src	breast:	n/a	chr8:63147611-63147621
24	FOSL2	chr8:63128956-63129479	A549	lung:	n/a	chr8:63129250-63129260 chr8:63129250-63129260
25	FOSL2	chr8:63147005-63147696	A549	lung:	n/a	chr8:63147611-63147621
26	FOSL2	chr8:63146863-63147821	A549	lung:	n/a	chr8:63147611-63147621 chr8:63146863-63146872
27	GABPA	chr8:63143426-63143934	A549	lung:	n/a	n/a
28	GATA3	chr8:63146847-63147772	A549	lung:	n/a	chr8:63146947-63146960 chr8:63147350-63147360
29	JUND	chr8:63143516-63143826	HepG2	liver:	n/a	chr8:63143634-63143645 chr8:63143636-63143644 chr8:63143635-63143645 chr8:63143637-63143644 chr8:63143635-63143644 chr8:63143634-63143646 chr8:63143636-63143645
30	JUND	chr8:63129298-63129316	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAFK	chr8:63116237-63116349	HepG2	liver:	n/a	n/a
32	MAFK	chr8:63121665-63121874	HepG2	liver:	n/a	n/a
33	MAFK	chr8:63121692-63121838	HepG2	liver:	n/a	n/a
34	MAX	chr8:63146945-63147604	A549	lung:	n/a	n/a
35	MAX	chr8:63146931-63147640	A549	lung:	n/a	n/a
36	MYC	chr8:63155359-63155433	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr8:63150518-63150642	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr8:63146973-63147550	MCF10A-Er-Src	breast:	n/a	n/a
39	NFIC	chr8:63130309-63130674	GM12878	blood:	n/a	n/a
40	NR3C1	chr8:63147040-63147429	A549	lung:	n/a	n/a
41	NR3C1	chr8:63147000-63147487	A549	lung:	n/a	n/a
42	NR3C1	chr8:63147036-63147447	A549	lung:	n/a	n/a
43	POLR2A	chr8:63155082-63155109	A549	lung:	n/a	n/a
44	POLR2A	chr8:63153849-63153859	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr8:63145745-63145809	ProgFib	skin:	n/a	n/a
46	POLR2A	chr8:63151634-63151782	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr8:63122788-63122915	A549	lung:	n/a	n/a
48	POLR2A	chr8:63155054-63155089	MCF-7	breast:	n/a	n/a
49	POLR2A	chr8:63146535-63146647	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr8:63126133-63126387	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63153468..63155828-chr8:63369225..63371318,2	MCF-7	breast:

Variant related genes	Relation type
NKAIN3	TF binding region

Extended variants
information (count: 566 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529876484	chr8:63114499-63114500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139334894	chr8:63114506-63114507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569693701	chr8:63114526-63114527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60453695	chr8:63114560-63114561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552158357	chr8:63114561-63114562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61190800	chr8:63114629-63114630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535305097	chr8:63114660-63114661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181539437	chr8:63114734-63114735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542142660	chr8:63114755-63114756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187373907	chr8:63114761-63114762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59899302	chr8:63114777-63114778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190557474	chr8:63114786-63114787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181994183	chr8:63114849-63114850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143345811	chr8:63114854-63114855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572924321	chr8:63114865-63114866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34953893	chr8:63114871-63114872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531941858	chr8:63114874-63114875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370777495	chr8:63114875-63114876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148564140	chr8:63114880-63114881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541707436	chr8:63114954-63114955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117402675	chr8:63115003-63115004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73683020	chr8:63115010-63115011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs117810126	chr8:63115013-63115014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548302267	chr8:63115035-63115036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73683021	chr8:63115044-63115045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563622295	chr8:63115125-63115126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73683022	chr8:63115146-63115147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568705204	chr8:63115166-63115167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186151918	chr8:63115183-63115184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550854736	chr8:63115192-63115193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs386726111	chr8:63115214-63115215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73683024	chr8:63115216-63115217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553555995	chr8:63115225-63115226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142846113	chr8:63115256-63115257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543620088	chr8:63115279-63115280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531075492	chr8:63115330-63115331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150640068	chr8:63115342-63115343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553231005	chr8:63115360-63115361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566920180	chr8:63115373-63115374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73683025	chr8:63115374-63115375	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs139819744	chr8:63115407-63115408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539208880	chr8:63115453-63115454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563307904	chr8:63115454-63115455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575534850	chr8:63115523-63115524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143569321	chr8:63115565-63115566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564208745	chr8:63115630-63115631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73683026	chr8:63115671-63115672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73683027	chr8:63115684-63115685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558852108	chr8:63115702-63115703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189692434	chr8:63115718-63115719	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63112600-63115000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:63113600-63115600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:63115000-63115800	Enhancers	Brain Germinal Matrix	brain
4	chr8:63115600-63116000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:63122800-63123000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:63127400-63127800	Enhancers	Primary B cells from cord blood	blood
7	chr8:63128000-63128400	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:63128000-63130600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:63128600-63129000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:63128600-63130000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:63128800-63129200	Enhancers	A549	lung
12	chr8:63129200-63129800	Flanking Active TSS	A549	lung
13	chr8:63129200-63130400	Enhancers	NH-A	brain
14	chr8:63129400-63129800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:63129400-63130600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:63129600-63130200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:63129600-63130400	Enhancers	HSMMtube	muscle
18	chr8:63129600-63130600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:63129600-63131400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:63129600-63131400	Enhancers	Fetal Brain Male	brain
21	chr8:63129800-63130000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:63129800-63130000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:63129800-63130400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:63129800-63130400	Enhancers	A549	lung
25	chr8:63130000-63130200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:63130000-63130200	Enhancers	Brain Germinal Matrix	brain
27	chr8:63130000-63130200	Flanking Active TSS	Fetal Brain Female	brain
28	chr8:63130000-63130400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:63130000-63130400	Active TSS	Brain Anterior Caudate	brain
30	chr8:63130200-63130400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:63130200-63130400	Active TSS	Fetal Brain Female	brain
32	chr8:63130200-63130400	Enhancers	Small Intestine	intestine
33	chr8:63130200-63130400	Enhancers	GM12878-XiMat	blood
34	chr8:63130200-63130600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr8:63130200-63130600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:63130200-63130600	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr8:63130200-63131800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:63130400-63130600	Flanking Active TSS	Fetal Brain Female	brain
39	chr8:63130600-63130800	Enhancers	Fetal Brain Female	brain
40	chr8:63130600-63131600	Weak transcription	Brain Germinal Matrix	brain
41	chr8:63130600-63131800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:63130800-63131200	Weak transcription	Fetal Brain Female	brain
43	chr8:63131200-63131800	Enhancers	Fetal Brain Female	brain
44	chr8:63131600-63132400	Enhancers	Brain Germinal Matrix	brain
45	chr8:63132200-63132400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:63143400-63144400	Enhancers	A549	lung
47	chr8:63144400-63145800	Weak transcription	A549	lung
48	chr8:63145800-63146400	Enhancers	A549	lung
49	chr8:63145800-63147800	Enhancers	Hela-S3	cervix
50	chr8:63145800-63148000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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