Variant report

Variant	nsv968546
Chromosome Location	chr8:62689202-62696074
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	ARID3A	chr8:62695313-62695942	HepG2	liver:	n/a	n/a
2	ATF2	chr8:62692855-62693270	GM12878	blood:	n/a	n/a
3	ATF2	chr8:62692712-62693204	GM12878	blood:	n/a	n/a
4	ATF3	chr8:62695221-62695762	A549	lung:	n/a	n/a
5	BATF	chr8:62692823-62693294	GM12878	blood:	n/a	chr8:62692998-62693007
6	BATF	chr8:62692813-62693451	GM12878	blood:	n/a	chr8:62692998-62693007
7	BCL3	chr8:62695126-62695891	A549	lung:	n/a	n/a
8	CEBPB	chr8:62695311-62695635	HepG2	liver:	n/a	chr8:62695516-62695529
9	CEBPB	chr8:62695239-62695834	MCF-7	breast:	n/a	chr8:62695516-62695529
10	CEBPB	chr8:62695203-62695811	MCF-7	breast:	n/a	chr8:62695516-62695529
11	CEBPB	chr8:62695220-62695734	A549	lung:	n/a	chr8:62695516-62695529
12	CEBPB	chr8:62692937-62693031	K562	blood:	n/a	chr8:62692977-62692990
13	CEBPB	chr8:62691738-62691936	K562	blood:	n/a	n/a
14	CEBPB	chr8:62691339-62692319	A549	lung:	n/a	n/a
15	CEBPB	chr8:62692671-62693244	A549	lung:	n/a	chr8:62692977-62692990
16	CEBPB	chr8:62691621-62691979	IMR90	lung:	n/a	n/a
17	CEBPB	chr8:62695380-62695581	HepG2	liver:	n/a	chr8:62695516-62695529
18	CEBPB	chr8:62692687-62693172	Hela-S3	cervix:	n/a	chr8:62692977-62692990
19	CEBPB	chr8:62691250-62692291	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr8:62692857-62693130	A549	lung:	n/a	chr8:62692977-62692990
21	CEBPB	chr8:62695278-62695690	Hela-S3	cervix:	n/a	chr8:62695516-62695529
22	CEBPB	chr8:62691670-62692037	MCF-7	breast:	n/a	n/a
23	CEBPB	chr8:62691121-62692283	A549	lung:	n/a	n/a
24	CEBPB	chr8:62695316-62695692	A549	lung:	n/a	chr8:62695516-62695529
25	CEBPB	chr8:62691533-62692097	MCF-7	breast:	n/a	n/a
26	CEBPB	chr8:62691557-62692098	A549	lung:	n/a	n/a
27	CEBPB	chr8:62691694-62691818	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr8:62695313-62695716	HepG2	liver:	n/a	chr8:62695516-62695529
29	CEBPB	chr8:62695072-62696200	A549	lung:	n/a	chr8:62695516-62695529
30	CTCF	chr8:62694260-62694410	HCM	heart:	n/a	chr8:62694336-62694357
31	CTCF	chr8:62694240-62694390	HPAF	blood vessel:	n/a	chr8:62694336-62694357
32	CTCF	chr8:62694254-62694391	LNCaP	prostate:	n/a	chr8:62694336-62694357
33	CTCF	chr8:62694320-62694470	HCPEpiC	choroid plexus:	n/a	chr8:62694336-62694357
34	CTCF	chr8:62694275-62694393	HUVEC	blood vessel:	n/a	chr8:62694336-62694357
35	CTCF	chr8:62694260-62694410	AG09319	gingival:	n/a	chr8:62694336-62694357
36	CTCF	chr8:62694320-62694470	HPF	lung:	n/a	chr8:62694336-62694357
37	CTCF	chr8:62691440-62691590	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr8:62694301-62694397	Medullo	brain:	n/a	chr8:62694336-62694357
39	CTCF	chr8:62694280-62694430	AG09319	gingival:	n/a	chr8:62694336-62694357
40	CTCF	chr8:62694280-62694430	HCFaa	heart:	n/a	chr8:62694336-62694357
41	CTCF	chr8:62694260-62694410	AoAF	blood vessel:	n/a	chr8:62694336-62694357
42	CTCF	chr8:62694240-62694390	Hela-S3	cervix:	n/a	chr8:62694336-62694357
43	CTCF	chr8:62694288-62694389	K562	blood:	n/a	chr8:62694336-62694357
44	CTCF	chr8:62691407-62691591	K562	blood:	n/a	n/a
45	CTCF	chr8:62690920-62691070	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr8:62694120-62694270	HMF	breast:	n/a	n/a
47	CTCF	chr8:62694297-62694403	LNCaP	prostate:	n/a	chr8:62694336-62694357
48	CTCF	chr8:62694196-62694587	K562	blood:	n/a	chr8:62694336-62694357
49	CTCF	chr8:62694300-62694450	AG10803	skin:	n/a	chr8:62694336-62694357
50	CTCF	chr8:62694286-62694390	Hela-S3	cervix:	n/a	chr8:62694336-62694357

No.	Distal block	Cell Line	Cell type
1	chr8:62646181..62648199-chr8:62694469..62696991,2	MCF-7	breast:
2	chr8:62625464..62627946-chr8:62695567..62698459,4	MCF-7	breast:
3	chr8:62690850..62692862-chr8:62695568..62697831,2	MCF-7	breast:
4	chr8:62637023..62637544-chr8:62693847..62694640,2	MCF-7	breast:
5	chr8:62681389..62684437-chr8:62686208..62689276,4	K562	blood:
6	chr8:62689606..62691106-chr8:62694744..62696625,2	K562	blood:
7	chr8:62689606..62691106-chr8:62694744..62696625,2	K562	blood:
8	chr8:62691275..62692962-chr8:62695381..62698338,2	K562	blood:
9	chr8:62684522..62687347-chr8:62687879..62690833,2	MCF-7	breast:
10	chr8:62646823..62647370-chr8:62695084..62695807,2	MCF-7	breast:
11	chr8:62675193..62676843-chr8:62690905..62693820,2	K562	blood:
12	chr8:62641475..62643115-chr8:62692238..62694630,2	K562	blood:
13	chr8:62680593..62682982-chr8:62689344..62691364,2	MCF-7	breast:
14	chr8:62671674..62674406-chr8:62692816..62694496,2	K562	blood:
15	chr8:62688734..62690854-chr8:62691636..62693377,2	K562	blood:
16	chr8:62685719..62688066-chr8:62690327..62692016,3	K562	blood:
17	chr8:62688734..62690854-chr8:62691636..62693377,2	K562	blood:
18	chr8:62625365..62627595-chr8:62693596..62695421,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254119	TF binding region
ENSG00000198363	chromatin interactions
ENSG00000254119	chromatin interactions
ENSG00000264408	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:269 , 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	rs193173490	chr8:62689209-62689210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558125961	chr8:62689222-62689223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576380735	chr8:62689249-62689250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34340400	chr8:62689266-62689267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77377528	chr8:62689267-62689268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6988351	chr8:62689301-62689302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574953567	chr8:62689302-62689303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567523566	chr8:62689307-62689308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376905810	chr8:62689314-62689315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59671802	chr8:62689324-62689325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562638750	chr8:62689386-62689387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531230711	chr8:62689393-62689394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147308691	chr8:62689397-62689398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200487023	chr8:62689398-62689399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564482709	chr8:62689505-62689506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113809715	chr8:62689523-62689524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13266168	chr8:62689524-62689525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114295205	chr8:62689527-62689528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372584212	chr8:62689563-62689564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568521032	chr8:62689593-62689594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529882250	chr8:62689639-62689640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547971295	chr8:62689642-62689643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569660720	chr8:62689737-62689738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373031094	chr8:62689745-62689746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536948974	chr8:62689750-62689751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111282544	chr8:62689823-62689824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76237139	chr8:62689849-62689850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78127162	chr8:62689850-62689851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552829421	chr8:62689912-62689913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55839820	chr8:62689965-62689966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1015905	chr8:62690015-62690016	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs184412717	chr8:62690030-62690031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141516554	chr8:62690036-62690037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370821440	chr8:62690045-62690046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189020489	chr8:62690055-62690056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564742550	chr8:62690059-62690060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528505797	chr8:62690060-62690061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182015957	chr8:62690061-62690062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556988582	chr8:62690063-62690064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562079714	chr8:62690076-62690077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79166815	chr8:62690096-62690097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550614025	chr8:62690186-62690187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566892012	chr8:62690236-62690237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530582357	chr8:62690299-62690300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374371274	chr8:62690382-62690383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552073995	chr8:62690387-62690388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368614581	chr8:62690442-62690443	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs564801991	chr8:62690531-62690532	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546573825	chr8:62690562-62690563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs533416039	chr8:62690577-62690578	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62685600-62696200	Weak transcription	Pancreas	Pancrea
2	chr8:62686400-62690600	Weak transcription	Hela-S3	cervix
3	chr8:62686400-62691000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:62686600-62690400	Enhancers	NHDF-Ad	bronchial
5	chr8:62686800-62690600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:62686800-62692600	Weak transcription	Osteobl	bone
7	chr8:62687600-62690400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:62688000-62690400	Weak transcription	Adipose Nuclei	Adipose
9	chr8:62688000-62690400	Enhancers	A549	lung
10	chr8:62688000-62691400	Weak transcription	Liver	Liver
11	chr8:62690000-62690200	Enhancers	K562	blood
12	chr8:62690000-62691000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:62690200-62690600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:62690200-62690600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:62690200-62698000	Weak transcription	K562	blood
16	chr8:62690400-62690800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:62690400-62691000	Enhancers	Adipose Nuclei	Adipose
18	chr8:62690400-62691400	Weak transcription	NHDF-Ad	bronchial
19	chr8:62690400-62691600	Enhancers	Fetal Lung	lung
20	chr8:62690400-62693000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:62690400-62693200	Flanking Active TSS	A549	lung
22	chr8:62690600-62690800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:62690600-62692600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:62690600-62692600	Enhancers	Hela-S3	cervix
25	chr8:62690600-62702000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:62690800-62692400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:62691000-62691200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:62691000-62692000	Weak transcription	Adipose Nuclei	Adipose
29	chr8:62691000-62692200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:62691000-62692200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:62691000-62692800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:62691400-62691600	Enhancers	NHDF-Ad	bronchial
33	chr8:62691400-62692400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:62691400-62700200	Enhancers	Liver	Liver
35	chr8:62691600-62698200	Weak transcription	NHDF-Ad	bronchial
36	chr8:62692000-62692600	Enhancers	Stomach Mucosa	stomach
37	chr8:62692000-62692800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:62692000-62692800	Enhancers	Adipose Nuclei	Adipose
39	chr8:62692200-62692800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:62692200-62697800	Enhancers	HepG2	liver
41	chr8:62692400-62692600	Enhancers	Lung	lung
42	chr8:62692400-62692800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr8:62692400-62692800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:62692400-62692800	Enhancers	Duodenum Mucosa	Duodenum
45	chr8:62692400-62693000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr8:62692400-62693200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:62692400-62693200	Enhancers	Primary B cells from peripheral blood	blood
48	chr8:62692400-62693400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:62692400-62693800	Enhancers	Primary B cells from cord blood	blood
50	chr8:62692600-62692800	Enhancers	HUES48 Cell Line	embryonic stem cell

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