Variant report

Variant	nsv6178
Chromosome Location	chr8:48059101-48080049
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	ATF3	chr8:48079064-48079208	K562	blood:	n/a	n/a
2	BHLHE40	chr8:48079038-48079257	K562	blood:	n/a	n/a
3	CBX3	chr8:48078812-48079474	HCT-116	colon:	n/a	n/a
4	CEBPB	chr8:48068657-48068852	A549	lung:	n/a	n/a
5	CEBPB	chr8:48068712-48068795	K562	blood:	n/a	n/a
6	CEBPB	chr8:48068628-48068812	IMR90	lung:	n/a	n/a
7	CEBPB	chr8:48068594-48068897	HepG2	liver:	n/a	n/a
8	CHD2	chr8:48079186-48079217	HepG2	liver:	n/a	n/a
9	CTCF	chr8:48079039-48079295	HepG2	liver:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
10	CTCF	chr8:48079060-48079210	WI-38	lung:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
11	CTCF	chr8:48079040-48079190	GM12867	blood:	n/a	chr8:48079155-48079164 chr8:48079100-48079108
12	CTCF	chr8:48079080-48079230	AoAF	blood vessel:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
13	CTCF	chr8:48078865-48078896	GM10248	blood:	n/a	n/a
14	CTCF	chr8:48078823-48079589	SK-N-SH	brain:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
15	CTCF	chr8:48078894-48079326	Gliobla	brain:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
16	CTCF	chr8:48079100-48079250	GM12865	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
17	CTCF	chr8:48078983-48079272	ECC-1	luminal epithelium:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
18	CTCF	chr8:48078973-48079288	Kidney_OC	kidney:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
19	CTCF	chr8:48079140-48079290	GM12866	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164
20	CTCF	chr8:48079100-48079250	HBMEC	blood vessel:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
21	CTCF	chr8:48079100-48079250	HPAF	blood vessel:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
22	CTCF	chr8:48078973-48079297	GM12892	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
23	CTCF	chr8:48079080-48079230	RPTEC	kidney:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
24	CTCF	chr8:48079080-48079230	AG09319	gingival:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
25	CTCF	chr8:48079120-48079270	GM12801	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164
26	CTCF	chr8:48079080-48079230	AG04450	lung:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
27	CTCF	chr8:48079100-48079250	HRPEpiC	eye:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
28	CTCF	chr8:48079100-48079250	GM12867	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
29	CTCF	chr8:48079080-48079230	HUVEC	blood vessel:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
30	CTCF	chr8:48078995-48079294	GM19239	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
31	CTCF	chr8:48078929-48079370	A549	lung:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
32	CTCF	chr8:48078941-48079298	MCF-7	breast:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
33	CTCF	chr8:48078540-48078690	HCFaa	heart:	n/a	n/a
34	CTCF	chr8:48079080-48079230	Hela-S3	cervix:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
35	CTCF	chr8:48079063-48079300	HUVEC	blood vessel:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
36	CTCF	chr8:48078933-48079307	ProgFib	skin:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
37	CTCF	chr8:48079029-48079283	GM13977	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
38	CTCF	chr8:48078915-48079293	HepG2	liver:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
39	CTCF	chr8:48079080-48079230	AG09309	skin:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
40	CTCF	chr8:48079046-48079277	Medullo	brain:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
41	CTCF	chr8:48078500-48078650	GM12873	blood:	n/a	n/a
42	CTCF	chr8:48079060-48079210	GM12865	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
43	CTCF	chr8:48078600-48078750	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr8:48078520-48078670	GM12871	blood:	n/a	n/a
45	CTCF	chr8:48066253-48066266	GM13977	blood:	n/a	n/a
46	CTCF	chr8:48079080-48079230	GM12875	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
47	CTCF	chr8:48079080-48079230	GM12874	blood:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108
48	CTCF	chr8:48079120-48079270	HRPEpiC	eye:	n/a	chr8:48079185-48079203 chr8:48079155-48079164
49	CTCF	chr8:48079040-48079190	MCF-7	breast:	n/a	chr8:48079155-48079164 chr8:48079100-48079108
50	CTCF	chr8:48078589-48079570	A549	lung:	n/a	chr8:48079185-48079203 chr8:48079155-48079164 chr8:48079100-48079108

No.	Distal block	Cell Line	Cell type
1	chr8:48077834..48080111-chr8:48648682..48651633,2	MCF-7	breast:
2	chr8:48078537..48080562-chr8:48085847..48088452,2	MCF-7	breast:
3	chr8:47868355..47869368-chr8:48078653..48079520,3	MCF-7	breast:
4	chr8:48079045..48079614-chr8:48100462..48100993,2	MCF-7	breast:
5	chr8:48078768..48081017-chr8:48097820..48099416,2	MCF-7	breast:
6	chr8:48078161..48080655-chr8:48649461..48651455,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1134I14.8.1-4	chr8:48077043-48077147	NONHSAT126433
2	lnc-RP11-1134I14.8.1-4	chr8:48076493-48076730	NONHSAT126433

Variant related genes	Relation type
NDUFA5P12	TF binding region
RPL10AP2	TF binding region
ENSG00000254348	chromatin interactions

Extended variants
information (count: 257 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140265450	chr8:48059172-48059173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562068332	chr8:48059249-48059250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574316298	chr8:48059294-48059295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138761331	chr8:48059333-48059334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534759582	chr8:48059344-48059345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553310331	chr8:48059380-48059381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559623726	chr8:48059399-48059400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545438003	chr8:48059456-48059457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142134266	chr8:48059495-48059496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113702735	chr8:48059499-48059500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575587395	chr8:48059525-48059526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375480183	chr8:48059606-48059607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113823107	chr8:48059627-48059628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117224045	chr8:48059640-48059641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370889632	chr8:48059661-48059662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57564982	chr8:48059675-48059676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528670412	chr8:48059763-48059764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190329751	chr8:48059765-48059766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546757589	chr8:48059807-48059808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565260037	chr8:48059841-48059842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182844853	chr8:48059888-48059889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551239581	chr8:48059922-48059923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569589381	chr8:48059970-48059971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149289464	chr8:48059984-48059985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548808187	chr8:48060088-48060089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567326437	chr8:48060125-48060126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74581006	chr8:48060127-48060128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553173425	chr8:48060152-48060153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571443296	chr8:48060158-48060159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538977981	chr8:48060202-48060203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557221339	chr8:48060205-48060206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112181170	chr8:48060257-48060258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185649893	chr8:48060310-48060311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200445833	chr8:48060314-48060315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144547914	chr8:48060358-48060359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58717664	chr8:48060475-48060476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190013810	chr8:48060491-48060492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116980433	chr8:48060560-48060561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572975339	chr8:48060611-48060612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10106741	chr8:48060689-48060690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565169734	chr8:48060698-48060699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374085581	chr8:48060703-48060704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35370059	chr8:48060844-48060845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566388518	chr8:48060856-48060857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182638816	chr8:48060894-48060895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563150910	chr8:48060928-48060929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61144939	chr8:48060933-48060934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187763643	chr8:48060952-48060953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148470439	chr8:48060976-48060977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567389578	chr8:48060977-48060978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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
Tetralogy of Fallot	22912587	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48040600-48061200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:48064400-48064800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
3	chr8:48076200-48076600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr8:48076600-48078800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:48078800-48079000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:48078800-48079200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr8:48078800-48079200	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:48078800-48079200	Enhancers	Liver	Liver
9	chr8:48078800-48079200	Active TSS	Colonic Mucosa	Colon
10	chr8:48078800-48079200	Active TSS	Duodenum Mucosa	Duodenum
11	chr8:48078800-48079200	Active TSS	Fetal Intestine Large	intestine
12	chr8:48078800-48079200	Enhancers	Gastric	stomach
13	chr8:48078800-48079200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr8:48078800-48079200	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr8:48078800-48079200	Active TSS	A549	lung
16	chr8:48078800-48079200	Active TSS	Hela-S3	cervix

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