Variant report

Variant	esv3499326
Chromosome Location	chr8:87098536-87102734
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	chr8:87100789-87101048	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:87100831-87101147	K562	blood:	n/a	n/a
3	CEBPB	chr8:87098665-87099004	K562	blood:	n/a	chr8:87098830-87098841
4	CEBPB	chr8:87098725-87098989	H1-hESC	embryonic stem cell:	n/a	chr8:87098830-87098841
5	CEBPB	chr8:87098707-87099017	HepG2	liver:	n/a	chr8:87098830-87098841
6	CEBPB	chr8:87098686-87099007	IMR90	lung:	n/a	chr8:87098830-87098841
7	CEBPB	chr8:87098682-87099011	A549	lung:	n/a	chr8:87098830-87098841
8	CTCF	chr8:87100746-87101157	T-47D	breast:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
9	CTCF	chr8:87100883-87101018	SK-N-SH_RA	brain:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
10	CTCF	chr8:87100860-87101065	A549	lung:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
11	CTCF	chr8:87100900-87101050	GM12869	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
12	CTCF	chr8:87100920-87101070	GM12865	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
13	CTCF	chr8:87100803-87101085	ECC-1	luminal epithelium:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
14	CTCF	chr8:87100940-87101090	HRE	kidney:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
15	CTCF	chr8:87100800-87100950	WI-38	lung:	n/a	n/a
16	CTCF	chr8:87100880-87101030	RPTEC	kidney:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
17	CTCF	chr8:87100940-87101090	HFF-Myc	foreskin:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
18	CTCF	chr8:87100880-87101030	SAEC	small airway:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
19	CTCF	chr8:87100860-87101010	SAEC	small airway:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
20	CTCF	chr8:87100880-87101030	GM12867	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
21	CTCF	chr8:87100900-87101050	AoAF	blood vessel:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
22	CTCF	chr8:87100878-87101072	MCF-7	breast:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
23	CTCF	chr8:87100862-87101085	Hela-S3	cervix:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
24	CTCF	chr8:87100920-87101070	HCM	heart:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
25	CTCF	chr8:87100820-87100970	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr8:87100834-87101041	HepG2	liver:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
27	CTCF	chr8:87100820-87100970	HAc	cerebellar:	n/a	n/a
28	CTCF	chr8:87100868-87101087	LNCaP	prostate:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
29	CTCF	chr8:87100880-87101030	HPAF	blood vessel:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
30	CTCF	chr8:87100880-87101030	HBMEC	blood vessel:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
31	CTCF	chr8:87100876-87101075	HepG2	liver:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
32	CTCF	chr8:87100880-87101030	HCT-116	colon:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
33	CTCF	chr8:87100900-87101050	HUVEC	blood vessel:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
34	CTCF	chr8:87100920-87101070	NHEK	skin:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
35	CTCF	chr8:87100880-87101030	AG09309	skin:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
36	CTCF	chr8:87100880-87101030	A549	lung:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
37	CTCF	chr8:87100869-87101079	LNCaP	prostate:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
38	CTCF	chr8:87100880-87101030	GM12865	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
39	CTCF	chr8:87100755-87101256	K562	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
40	CTCF	chr8:87100816-87101127	T-47D	breast:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
41	CTCF	chr8:87100900-87101050	GM12873	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
42	CTCF	chr8:87100759-87101162	K562	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
43	CTCF	chr8:87100859-87101104	K562	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
44	CTCF	chr8:87100900-87101050	HPAF	blood vessel:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
45	CTCF	chr8:87100920-87101070	GM12878	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
46	CTCF	chr8:87100886-87101121	K562	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
47	CTCF	chr8:87100708-87101186	A549	lung:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
48	CTCF	chr8:87100508-87101601	A549	lung:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
49	CTCF	chr8:87100867-87101073	Gliobla	brain:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
50	CTCF	chr8:87100840-87100990	HL-60	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86211068..86212027-chr8:87100896..87101631,2	K562	blood:

Variant related genes	Relation type
PSKH2	TF binding region

Extended variants
information (count: 163 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368250148	chr8:87098594-87098595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573117006	chr8:87098633-87098634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543008611	chr8:87098648-87098649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563296364	chr8:87098668-87098669	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs534039796	chr8:87098708-87098709	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531880920	chr8:87098718-87098719	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs186438543	chr8:87098732-87098733	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs190934344	chr8:87098736-87098737	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs527911074	chr8:87098792-87098793	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs10111380	chr8:87098815-87098816	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144368420	chr8:87098840-87098841	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555069378	chr8:87098854-87098855	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs148797759	chr8:87098923-87098924	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs549862311	chr8:87098925-87098926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs573661851	chr8:87098949-87098950	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs144819494	chr8:87098959-87098960	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375664780	chr8:87098978-87098979	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs368648485	chr8:87099034-87099035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535354153	chr8:87099037-87099038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554536563	chr8:87099046-87099047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565876980	chr8:87099068-87099069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182830180	chr8:87099131-87099132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557992029	chr8:87099134-87099135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7000293	chr8:87099145-87099146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543524498	chr8:87099155-87099156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186256722	chr8:87099171-87099172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6985206	chr8:87099172-87099173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543909400	chr8:87099271-87099272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7000491	chr8:87099274-87099275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577527506	chr8:87099280-87099281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562094200	chr8:87099287-87099288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147520760	chr8:87099322-87099323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374663805	chr8:87099337-87099338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190733896	chr8:87099359-87099360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564706802	chr8:87099421-87099422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4961074	chr8:87099501-87099502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371550038	chr8:87099544-87099545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200785689	chr8:87099607-87099608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71914123	chr8:87099614-87099615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397686916	chr8:87099621-87099622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550264768	chr8:87099649-87099650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1872135	chr8:87099703-87099704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527511677	chr8:87099756-87099757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529335669	chr8:87099771-87099772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549289140	chr8:87099857-87099858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182935132	chr8:87099870-87099871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74915069	chr8:87099876-87099877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549183120	chr8:87099880-87099881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562083464	chr8:87099989-87099990	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs534917372	chr8:87100006-87100007	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87082400-87126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87098400-87098800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:87098400-87098800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr8:87098800-87100600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:87100000-87100200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:87100200-87102200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:87100400-87100600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:87100400-87101000	Enhancers	Fetal Lung	lung
9	chr8:87100600-87100800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:87100600-87101000	Enhancers	Adipose Nuclei	Adipose
11	chr8:87100600-87101000	Enhancers	Brain Anterior Caudate	brain
12	chr8:87100600-87101000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr8:87100600-87101000	Enhancers	Stomach Mucosa	stomach
14	chr8:87100600-87101000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr8:87100600-87105800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:87100800-87101000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:87100800-87101200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:87101000-87101800	Weak transcription	Stomach Mucosa	stomach
19	chr8:87101000-87102000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:87101200-87101600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:87101600-87102200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:87101600-87102200	Enhancers	Fetal Heart	heart
23	chr8:87101800-87102000	Enhancers	Stomach Mucosa	stomach
24	chr8:87101800-87103000	Enhancers	NH-A	brain
25	chr8:87102000-87103000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:87102200-87102400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:87102200-87103000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:87102400-87102800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:87102600-87102800	Enhancers	HSMM	muscle

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