Variant report

Variant	esv2625263
Chromosome Location	chr8:63960335-63966497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63950179..63953550-chr8:63956000..63961014,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137563	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369674158	chr8:63960341-63960342	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189855843	chr8:63960374-63960375	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs118071010	chr8:63960388-63960389	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565631149	chr8:63960394-63960395	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557370382	chr8:63960399-63960400	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567962116	chr8:63960426-63960427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573688025	chr8:63960451-63960452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535251081	chr8:63960481-63960482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73684508	chr8:63960498-63960499	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568776215	chr8:63960518-63960519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537072504	chr8:63960530-63960531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558865611	chr8:63960540-63960541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577272301	chr8:63960541-63960542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541551769	chr8:63960568-63960569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149640105	chr8:63960604-63960605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34349258	chr8:63960619-63960620	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs144394497	chr8:63960634-63960635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34791584	chr8:63960661-63960662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542409568	chr8:63960670-63960671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79680324	chr8:63960717-63960718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181959780	chr8:63960732-63960733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148341113	chr8:63960809-63960810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545493978	chr8:63960823-63960824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564148779	chr8:63960869-63960870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528071180	chr8:63960890-63960891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186182271	chr8:63960927-63960928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567801244	chr8:63960932-63960933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539470541	chr8:63960933-63960934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189858923	chr8:63960937-63960938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs13267266	chr8:63960960-63960961	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs568813213	chr8:63960980-63960981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539678454	chr8:63961006-63961007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551374138	chr8:63961050-63961051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146324356	chr8:63961051-63961052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139599212	chr8:63961055-63961056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556026525	chr8:63961076-63961077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10094071	chr8:63961105-63961106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536059909	chr8:63961131-63961132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34169986	chr8:63961147-63961148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs564245163	chr8:63961266-63961267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180814086	chr8:63961310-63961311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546524864	chr8:63961311-63961312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564605008	chr8:63961320-63961321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374621718	chr8:63961343-63961344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139720578	chr8:63961382-63961383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34904396	chr8:63961447-63961448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75691327	chr8:63961449-63961450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561465964	chr8:63961452-63961453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78105862	chr8:63961471-63961472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528907280	chr8:63961495-63961496	Weak transcription	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63959600-63960400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
2	chr8:63959800-63960400	ZNF genes & repeats	Liver	Liver
3	chr8:63960400-63967200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:63960400-63972400	Weak transcription	Liver	Liver
5	chr8:63963400-63964000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr8:63963400-63964000	Enhancers	HepG2	liver
7	chr8:63964000-63965200	Weak transcription	HepG2	liver
8	chr8:63964000-63967200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:63965200-63965600	Flanking Active TSS	HepG2	liver
10	chr8:63965600-63966400	Enhancers	HepG2	liver
11	chr8:63966200-63967400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr8:63966400-63968200	Weak transcription	HepG2	liver

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