Variant report

Variant	nsv890937
Chromosome Location	chr8:58600994-58695807
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	chr8:58653155-58653778	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:58663404-58663866	HepG2	liver:	n/a	n/a
3	BACH1	chr8:58637696-58637806	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr8:58638133-58638140	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr8:58679096-58679279	GM12878	blood:	n/a	n/a
6	BHLHE40	chr8:58663530-58663902	HepG2	liver:	n/a	n/a
7	CBX3	chr8:58690245-58690500	K562	blood:	n/a	n/a
8	CEBPB	chr8:58692323-58692565	HepG2	liver:	n/a	n/a
9	CEBPB	chr8:58653361-58653688	A549	lung:	n/a	chr8:58653561-58653572
10	CEBPB	chr8:58645691-58645883	A549	lung:	n/a	n/a
11	CEBPB	chr8:58653411-58653854	MCF-7	breast:	n/a	chr8:58653561-58653572 chr8:58653743-58653751
12	CEBPB	chr8:58672702-58672829	H1-hESC	embryonic stem cell:	n/a	chr8:58672772-58672783
13	CEBPB	chr8:58672766-58672788	HepG2	liver:	n/a	chr8:58672772-58672783
14	CEBPB	chr8:58650208-58650293	HepG2	liver:	n/a	chr8:58650272-58650283
15	CEBPB	chr8:58653393-58653752	IMR90	lung:	n/a	chr8:58653561-58653572 chr8:58653743-58653751
16	CEBPB	chr8:58653395-58653782	MCF-7	breast:	n/a	chr8:58653561-58653572 chr8:58653743-58653751
17	CEBPB	chr8:58653386-58653740	A549	lung:	n/a	chr8:58653561-58653572
18	CEBPB	chr8:58653379-58653775	HepG2	liver:	n/a	chr8:58653561-58653572 chr8:58653743-58653751
19	CEBPB	chr8:58653298-58653796	A549	lung:	n/a	chr8:58653561-58653572 chr8:58653743-58653751
20	CEBPB	chr8:58653163-58653762	Hela-S3	cervix:	n/a	chr8:58653561-58653572 chr8:58653743-58653751
21	CEBPB	chr8:58662831-58662905	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr8:58651968-58652218	MCF-7	breast:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
23	CTCF	chr8:58661120-58661270	GM06990	blood:	n/a	n/a
24	CTCF	chr8:58651960-58652110	HPAF	blood vessel:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
25	CTCF	chr8:58652020-58652170	GM12865	blood:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
26	CTCF	chr8:58651975-58652210	Pancreas_OC	pancreas:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
27	CTCF	chr8:58651940-58652090	GM12865	blood:	n/a	n/a
28	CTCF	chr8:58661270-58661327	GM12878	blood:	n/a	n/a
29	CTCF	chr8:58623880-58624030	HEK293	kidney:	n/a	n/a
30	CTCF	chr8:58652000-58652150	NHEK	skin:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
31	CTCF	chr8:58652020-58652170	HMF	breast:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
32	CTCF	chr8:58651980-58652130	HPF	lung:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
33	CTCF	chr8:58623960-58624110	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr8:58660840-58660990	AG09319	gingival:	n/a	n/a
35	CTCF	chr8:58661220-58661370	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr8:58661274-58661349	HepG2	liver:	n/a	n/a
37	CTCF	chr8:58652080-58652230	MCF-7	breast:	n/a	chr8:58652080-58652093
38	CTCF	chr8:58652020-58652170	NHDF-neo	bronchial:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
39	CTCF	chr8:58651980-58652130	NHEK	skin:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
40	CTCF	chr8:58629300-58629319	MCF-7	breast:	n/a	n/a
41	CTCF	chr8:58652005-58652185	Gliobla	brain:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
42	CTCF	chr8:58652040-58652190	GM12873	blood:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
43	CTCF	chr8:58651982-58652191	MCF-7	breast:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
44	CTCF	chr8:58651980-58652196	MCF-7	breast:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
45	CTCF	chr8:58661220-58661370	HCM	heart:	n/a	n/a
46	CTCF	chr8:58652020-58652170	AoAF	blood vessel:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
47	CTCF	chr8:58652030-58652135	A549	lung:	n/a	chr8:58652080-58652093 chr8:58652078-58652096 chr8:58652073-58652094
48	CTCF	chr8:58661600-58661750	HPF	lung:	n/a	n/a
49	CTCF	chr8:58679440-58679590	HRE	kidney:	n/a	n/a
50	CTCF	chr8:58661200-58661350	HA-sp	spinal cord:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:58489621..58490358-chr8:58651676..58652569,4	MCF-7	breast:
2	chr8:58676816..58679617-chr8:58680100..58681928,2	MCF-7	breast:
3	chr8:58487606..58488471-chr8:58651601..58652426,3	MCF-7	breast:
4	chr8:58676816..58679617-chr8:58680100..58681928,2	MCF-7	breast:
5	chr7:21984835..21985564-chr8:58694956..58695476,2	HCT-116	colon:
6	chr2:238427169..238427733-chr8:58660198..58661045,2	MCF-7	breast:
7	chr8:58630632..58632291-chr8:58633051..58635179,2	K562	blood:
8	chr8:58489495..58490193-chr8:58651461..58652081,3	MCF-7	breast:
9	chr8:58630632..58632291-chr8:58633051..58635179,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM110B-3	chr8:58660500-58662754	XLOC_006809
2	lnc-FAM110B-3	chr8:58658708-58658909	ENSG00000254139
3	lnc-FAM110B-3	chr8:58660500-58662758	ENSG00000254139
4	lnc-FAM110B-3	chr8:58658708-58658909	XLOC_006809

Variant related genes	Relation type
ENSG00000254139	TF binding region
ENSG00000164649	chromatin interactions

Extended variants
information (count: 2644 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2644 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7005602	chr8:58600994-58600995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578236101	chr8:58601004-58601005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538484635	chr8:58601006-58601007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528209222	chr8:58601008-58601009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73603761	chr8:58601038-58601039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13252002	chr8:58601059-58601060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs56259251	chr8:58601077-58601078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141065929	chr8:58601099-58601100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7460296	chr8:58601132-58601133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150261035	chr8:58601187-58601188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529227948	chr8:58601196-58601197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145868577	chr8:58601203-58601204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189702464	chr8:58601212-58601213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565801160	chr8:58601262-58601263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535127025	chr8:58601270-58601271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557619159	chr8:58601298-58601299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375033224	chr8:58601299-58601300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536887659	chr8:58601318-58601319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183459238	chr8:58601363-58601364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574008490	chr8:58601383-58601384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542612681	chr8:58601458-58601459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72657185	chr8:58601460-58601461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557414316	chr8:58601576-58601577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111850082	chr8:58601614-58601615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545086126	chr8:58601685-58601686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564871727	chr8:58601694-58601695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115104183	chr8:58601707-58601708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543637833	chr8:58601743-58601744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111366446	chr8:58601754-58601755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34792976	chr8:58601789-58601790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187733866	chr8:58601795-58601796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192989900	chr8:58601796-58601797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185280189	chr8:58601825-58601826	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116251559	chr8:58601830-58601831	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551840338	chr8:58601844-58601845	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145629283	chr8:58601895-58601896	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537225164	chr8:58601900-58601901	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550813507	chr8:58601926-58601927	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574218763	chr8:58601986-58601987	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567529290	chr8:58601992-58601993	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4344062	chr8:58602000-58602001	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs553352957	chr8:58602039-58602040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138241431	chr8:58602041-58602042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4599800	chr8:58602061-58602062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4344063	chr8:58602064-58602065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558598829	chr8:58602089-58602090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575266002	chr8:58602090-58602091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536938025	chr8:58602095-58602096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374307557	chr8:58602099-58602100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543575226	chr8:58602205-58602206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58600200-58601400	Weak transcription	Fetal Stomach	stomach
2	chr8:58600600-58601800	Weak transcription	Aorta	Aorta
3	chr8:58600800-58601000	Enhancers	Ovary	ovary
4	chr8:58601400-58602400	Enhancers	Fetal Stomach	stomach
5	chr8:58601800-58602000	ZNF genes & repeats	Aorta	Aorta
6	chr8:58602000-58616200	Weak transcription	Aorta	Aorta
7	chr8:58602800-58603200	Enhancers	Left Ventricle	heart
8	chr8:58602800-58603200	Enhancers	Pancreas	Pancrea
9	chr8:58603200-58606400	Weak transcription	Pancreas	Pancrea
10	chr8:58606200-58607000	Enhancers	Fetal Brain Male	brain
11	chr8:58606400-58606600	Enhancers	Left Ventricle	heart
12	chr8:58606400-58606600	Enhancers	Pancreas	Pancrea
13	chr8:58606600-58607000	Weak transcription	Pancreas	Pancrea
14	chr8:58607000-58608200	Enhancers	Stomach Mucosa	stomach
15	chr8:58607000-58608400	Enhancers	Pancreas	Pancrea
16	chr8:58607200-58607600	Enhancers	Gastric	stomach
17	chr8:58607400-58608400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:58607400-58608400	Enhancers	Adipose Nuclei	Adipose
19	chr8:58608400-58614200	Weak transcription	Pancreas	Pancrea
20	chr8:58608800-58609600	Weak transcription	Lung	lung
21	chr8:58614000-58616600	Enhancers	Fetal Muscle Leg	muscle
22	chr8:58614000-58616800	Enhancers	Fetal Stomach	stomach
23	chr8:58614000-58619600	Enhancers	Fetal Lung	lung
24	chr8:58614200-58614400	Enhancers	Lung	lung
25	chr8:58614200-58614600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:58614200-58615800	Enhancers	Fetal Brain Male	brain
27	chr8:58614200-58616600	Enhancers	Fetal Heart	heart
28	chr8:58614200-58616600	Enhancers	Fetal Muscle Trunk	muscle
29	chr8:58614200-58616600	Enhancers	Left Ventricle	heart
30	chr8:58614200-58616800	Enhancers	Ovary	ovary
31	chr8:58614200-58617000	Enhancers	Pancreas	Pancrea
32	chr8:58614400-58615000	Weak transcription	Lung	lung
33	chr8:58614400-58616000	Enhancers	Fetal Brain Female	brain
34	chr8:58614600-58618000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:58614800-58615200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:58614800-58615400	Enhancers	Dnd41	blood
37	chr8:58614800-58616000	Enhancers	Brain Germinal Matrix	brain
38	chr8:58614800-58616200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr8:58614800-58616200	Enhancers	HSMM	muscle
40	chr8:58615000-58615200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr8:58615000-58615200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:58615000-58615200	Enhancers	Brain Cingulate Gyrus	brain
43	chr8:58615000-58615200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr8:58615000-58615400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr8:58615000-58615400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr8:58615000-58615600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:58615000-58615800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr8:58615000-58616000	Enhancers	Brain Substantia Nigra	brain
49	chr8:58615000-58616000	Enhancers	Lung	lung
50	chr8:58615000-58616000	Enhancers	Skeletal Muscle Male	skeletal muscle

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