Variant report

Variant	esv3418562
Chromosome Location	chr8:68314698-68317071
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	CUX1	chr8:68316911-68316917	K562	blood:	n/a	n/a
2	ZNF274	chr8:68315419-68315795	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68312439..68315164-chr8:68315835..68318294,2	MCF-7	breast:
2	chr8:68312439..68315164-chr8:68315835..68318294,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241961	TF binding region

Extended variants
information (count: 137 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138353537	chr8:68314701-68314702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562259370	chr8:68314708-68314709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113267321	chr8:68314748-68314749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144369350	chr8:68314773-68314774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75053663	chr8:68314796-68314797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557637703	chr8:68314799-68314800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79026031	chr8:68314811-68314812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565019361	chr8:68314832-68314833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527623007	chr8:68314858-68314859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547609119	chr8:68314863-68314864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567420740	chr8:68314864-68314865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543536937	chr8:68314868-68314869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377635234	chr8:68314935-68314936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115100595	chr8:68314942-68314943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140938924	chr8:68314943-68314944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143181791	chr8:68314957-68314958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56762242	chr8:68314981-68314982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543455034	chr8:68315020-68315021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558943330	chr8:68315028-68315029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139960048	chr8:68315050-68315051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534941912	chr8:68315082-68315083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554854603	chr8:68315083-68315084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142834575	chr8:68315140-68315141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564906036	chr8:68315164-68315165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543631723	chr8:68315172-68315173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151035335	chr8:68315224-68315225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111357772	chr8:68315326-68315327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576123132	chr8:68315342-68315343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377717777	chr8:68315348-68315349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111302070	chr8:68315360-68315361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544670335	chr8:68315372-68315373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564939797	chr8:68315391-68315392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139666407	chr8:68315405-68315406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541286491	chr8:68315419-68315420	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs561179242	chr8:68315439-68315440	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs529884107	chr8:68315461-68315462	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550026602	chr8:68315471-68315472	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs190184201	chr8:68315476-68315477	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs111507492	chr8:68315492-68315493	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs532688260	chr8:68315522-68315523	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs561615450	chr8:68315537-68315538	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs61702591	chr8:68315565-68315566	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566027311	chr8:68315625-68315626	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs573634015	chr8:68315638-68315639	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534715488	chr8:68315648-68315649	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs376687045	chr8:68315650-68315651	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs554813758	chr8:68315672-68315673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs181524528	chr8:68315677-68315678	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186649352	chr8:68315679-68315680	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs540807466	chr8:68315687-68315688	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68309600-68327200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:68314200-68317600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:68314200-68317800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:68314200-68317800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr8:68314200-68323000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:68314400-68317600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr8:68316800-68317000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:68317000-68319000	Weak transcription	H9 Cell Line	embryonic stem cell

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