Variant report

Variant	esv2143067
Chromosome Location	chr8:87099552-87100976
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	CTCF	chr8:87100834-87101041	HepG2	liver:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
4	CTCF	chr8:87100880-87101030	SAEC	small airway:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
5	CTCF	chr8:87100860-87101010	GM12872	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
6	CTCF	chr8:87100880-87101030	BJ	skin:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
7	CTCF	chr8:87100904-87101052	GM13976	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
8	CTCF	chr8:87100544-87101190	SK-N-SH	brain:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
9	CTCF	chr8:87100900-87101050	GM12873	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
10	CTCF	chr8:87100880-87101030	GM12865	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
11	CTCF	chr8:87100880-87101030	Caco-2	colon:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
12	CTCF	chr8:87100920-87101070	GM12878	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
13	CTCF	chr8:87100880-87101030	HRE	kidney:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
14	CTCF	chr8:87100770-87101125	A549	lung:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
15	CTCF	chr8:87100920-87101070	HCM	heart:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
16	CTCF	chr8:87100898-87101047	ProgFib	skin:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
17	CTCF	chr8:87100880-87101030	A549	lung:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
18	CTCF	chr8:87100880-87101030	HRPEpiC	eye:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
19	CTCF	chr8:87100876-87101075	HepG2	liver:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
20	CTCF	chr8:87100900-87101050	GM12864	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
21	CTCF	chr8:87100880-87101030	GM12868	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
22	CTCF	chr8:87100920-87101070	HEEpiC	esophagus:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
23	CTCF	chr8:87100723-87101109	ECC-1	luminal epithelium:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
24	CTCF	chr8:87100885-87101092	GM10266	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
25	CTCF	chr8:87100900-87101050	HEK293	kidney:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
26	CTCF	chr8:87100859-87101104	K562	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
27	CTCF	chr8:87099980-87100130	BJ	skin:	n/a	n/a
28	CTCF	chr8:87100900-87101050	GM06990	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
29	CTCF	chr8:87100867-87101073	Gliobla	brain:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
30	CTCF	chr8:87100900-87101050	AG04449	skin:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
31	CTCF	chr8:87100820-87100970	HAc	cerebellar:	n/a	n/a
32	CTCF	chr8:87100880-87101030	HCPEpiC	choroid plexus:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
33	CTCF	chr8:87100880-87101030	NB4	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
34	CTCF	chr8:87100920-87101070	HRPEpiC	eye:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
35	CTCF	chr8:87100900-87101050	HFF-Myc	foreskin:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
36	CTCF	chr8:87100880-87101030	GM06990	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
37	CTCF	chr8:87100940-87101090	HRE	kidney:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
38	CTCF	chr8:87100843-87101103	MCF-7	breast:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
39	CTCF	chr8:87100940-87101090	HFF-Myc	foreskin:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
40	CTCF	chr8:87100880-87101030	HUVEC	blood vessel:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
41	CTCF	chr8:87100594-87101196	MCF-7	breast:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
42	CTCF	chr8:87100520-87100670	HCT-116	colon:	n/a	n/a
43	CTCF	chr8:87100920-87101070	GM12865	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
44	CTCF	chr8:87100704-87101108	HepG2	liver:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
45	CTCF	chr8:87100880-87101030	HMF	breast:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
46	CTCF	chr8:87100900-87101050	Hela-S3	cervix:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
47	CTCF	chr8:87100860-87101010	HBMEC	blood vessel:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
48	CTCF	chr8:87100880-87101030	GM12864	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
49	CTCF	chr8:87100800-87100950	WI-38	lung:	n/a	n/a
50	CTCF	chr8:87100840-87100990	BE2_C	brain:	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: 53 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200785689	chr8:87099607-87099608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71914123	chr8:87099614-87099615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397686916	chr8:87099621-87099622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550264768	chr8:87099649-87099650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1872135	chr8:87099703-87099704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527511677	chr8:87099756-87099757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529335669	chr8:87099771-87099772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549289140	chr8:87099857-87099858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182935132	chr8:87099870-87099871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74915069	chr8:87099876-87099877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549183120	chr8:87099880-87099881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562083464	chr8:87099989-87099990	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs534917372	chr8:87100006-87100007	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs557955025	chr8:87100007-87100008	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs571433265	chr8:87100026-87100027	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs74741115	chr8:87100029-87100030	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs115551687	chr8:87100041-87100042	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550750500	chr8:87100060-87100061	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs115800548	chr8:87100077-87100078	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569242987	chr8:87100083-87100084	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs117320407	chr8:87100123-87100124	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572359194	chr8:87100150-87100151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145479058	chr8:87100160-87100161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112414087	chr8:87100166-87100167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533609658	chr8:87100176-87100177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543531007	chr8:87100212-87100213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187272644	chr8:87100314-87100315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201415409	chr8:87100321-87100322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142232892	chr8:87100322-87100323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs33939655	chr8:87100323-87100324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555470287	chr8:87100356-87100357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143623123	chr8:87100360-87100361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529416232	chr8:87100361-87100362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10107781	chr8:87100367-87100368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs559805578	chr8:87100380-87100381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193063111	chr8:87100440-87100441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528358228	chr8:87100452-87100453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551686176	chr8:87100467-87100468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555096614	chr8:87100475-87100476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377633735	chr8:87100540-87100541	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs537301624	chr8:87100541-87100542	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs140918057	chr8:87100556-87100557	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs183194133	chr8:87100601-87100602	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs555917314	chr8:87100631-87100632	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs369897286	chr8:87100663-87100664	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs552524048	chr8:87100691-87100692	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs188254307	chr8:87100751-87100752	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs534971776	chr8:87100752-87100753	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs558458356	chr8:87100782-87100783	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs578103547	chr8:87100797-87100798	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:15 , 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	chr8:87098800-87100600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:87100000-87100200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:87100200-87102200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:87100400-87100600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:87100400-87101000	Enhancers	Fetal Lung	lung
7	chr8:87100600-87100800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:87100600-87101000	Enhancers	Adipose Nuclei	Adipose
9	chr8:87100600-87101000	Enhancers	Brain Anterior Caudate	brain
10	chr8:87100600-87101000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr8:87100600-87101000	Enhancers	Stomach Mucosa	stomach
12	chr8:87100600-87101000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr8:87100600-87105800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:87100800-87101000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:87100800-87101200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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