Variant report

Variant	esv3390496
Chromosome Location	chr8:66775633-66782628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66756263..66758077-chr8:66774849..66777339,2	MCF-7	breast:
2	chr8:66778427..66781377-chr8:66783381..66785048,2	K562	blood:
3	chr8:66746505..66747454-chr8:66776522..66777485,7	K562	blood:
4	chr8:66751352..66757675-chr8:66773820..66778624,7	K562	blood:
5	chr8:66752372..66755799-chr8:66778668..66780972,3	K562	blood:
6	chr8:66754050..66756297-chr8:66775531..66778624,3	K562	blood:
7	chr8:66753401..66755256-chr8:66775471..66777848,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205268	chromatin interactions
ENSG00000272192	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:297 , 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	rs183158320	chr8:66775636-66775637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536464435	chr8:66775693-66775694	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377190862	chr8:66775710-66775711	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527359953	chr8:66775711-66775712	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs73242971	chr8:66775745-66775746	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560163653	chr8:66775780-66775781	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567222639	chr8:66775782-66775783	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372584698	chr8:66775800-66775801	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536197167	chr8:66775811-66775812	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs551281702	chr8:66775819-66775820	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs569503649	chr8:66775866-66775867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576842074	chr8:66775875-66775876	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540049574	chr8:66775886-66775887	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs80124093	chr8:66775913-66775914	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs73242973	chr8:66775923-66775924	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533991365	chr8:66775928-66775929	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs73242974	chr8:66775943-66775944	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115109729	chr8:66775968-66775969	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs544133738	chr8:66775970-66775971	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs73242975	chr8:66775984-66775985	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs577831736	chr8:66775989-66775990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371268637	chr8:66775991-66775992	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs560047148	chr8:66776012-66776013	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs375032191	chr8:66776044-66776045	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs527381157	chr8:66776060-66776061	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs138473184	chr8:66776073-66776074	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560902714	chr8:66776096-66776097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs187649119	chr8:66776124-66776125	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs549777743	chr8:66776130-66776131	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs78917665	chr8:66776226-66776227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539704819	chr8:66776255-66776256	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs190861245	chr8:66776259-66776260	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566949591	chr8:66776283-66776284	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs141912300	chr8:66776285-66776286	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs555423982	chr8:66776312-66776313	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs118071588	chr8:66776315-66776316	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183238141	chr8:66776323-66776324	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs150630313	chr8:66776344-66776345	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs577875606	chr8:66776368-66776369	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566990826	chr8:66776430-66776431	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs560340465	chr8:66776431-66776432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572133896	chr8:66776434-66776435	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542773997	chr8:66776456-66776457	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs115809292	chr8:66776493-66776494	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371566127	chr8:66776517-66776518	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs58020170	chr8:66776542-66776543	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs139693121	chr8:66776578-66776579	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs532342712	chr8:66776696-66776697	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs552059821	chr8:66776750-66776751	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs564680124	chr8:66776756-66776757	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66774400-66779400	Weak transcription	Thymus	Thymus
2	chr8:66776600-66776800	Active TSS	HepG2	liver
3	chr8:66776800-66777000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:66776800-66777000	Flanking Active TSS	HepG2	liver
5	chr8:66776800-66777000	Enhancers	K562	blood
6	chr8:66777000-66781600	Weak transcription	K562	blood
7	chr8:66777000-66782400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:66777200-66777600	ZNF genes & repeats	Dnd41	blood
9	chr8:66777600-66779800	Weak transcription	Dnd41	blood
10	chr8:66780000-66780400	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:66780400-66782200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:66781600-66783600	Enhancers	K562	blood
13	chr8:66781800-66782400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:66782200-66783200	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:66782400-66783200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:66782400-66783200	Enhancers	Placenta	Placenta
17	chr8:66782600-66783200	Enhancers	Primary B cells from cord blood	blood

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