Variant report

Variant	esv3429465
Chromosome Location	chr8:111316976-111321374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:111314340..111317547-chr8:111319236..111321955,3	MCF-7	breast:
2	chr8:111319864..111321455-chr8:111321699..111324266,2	MCF-7	breast:
3	chr8:111314340..111317547-chr8:111319236..111321955,3	MCF-7	breast:
4	chr8:111318905..111321198-chr8:111339196..111341691,2	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547799760	chr8:111317001-111317002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535087229	chr8:111317067-111317068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs207469656	chr8:111317069-111317070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193094045	chr8:111317092-111317093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145026976	chr8:111317118-111317119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535290479	chr8:111317127-111317128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34906326	chr8:111317155-111317156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558498598	chr8:111317207-111317208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34094238	chr8:111317209-111317210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151242473	chr8:111317214-111317215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561150933	chr8:111317330-111317331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140901447	chr8:111317340-111317341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117051518	chr8:111317354-111317355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184655745	chr8:111317357-111317358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542652788	chr8:111317365-111317366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62528103	chr8:111317372-111317373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs34310637	chr8:111317389-111317390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189119444	chr8:111317421-111317422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181373958	chr8:111317431-111317432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564059740	chr8:111317452-111317453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548775551	chr8:111317467-111317468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532937225	chr8:111317471-111317472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11996644	chr8:111317482-111317483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569638356	chr8:111317529-111317530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184059408	chr8:111317626-111317627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541950730	chr8:111317647-111317648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548810453	chr8:111317651-111317652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138603887	chr8:111317668-111317669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534618985	chr8:111317757-111317758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181235576	chr8:111317764-111317765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376982130	chr8:111317788-111317789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558463504	chr8:111317872-111317873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571999932	chr8:111317876-111317877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370957014	chr8:111317884-111317885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537233589	chr8:111317889-111317890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142781437	chr8:111317904-111317905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574155018	chr8:111317943-111317944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543067112	chr8:111317967-111317968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373137137	chr8:111317988-111317989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7826697	chr8:111318046-111318047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370467325	chr8:111318085-111318086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545026586	chr8:111318117-111318118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537305681	chr8:111318123-111318124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577907517	chr8:111318127-111318128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543251797	chr8:111318150-111318151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189128154	chr8:111318159-111318160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117021130	chr8:111318212-111318213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74822682	chr8:111318259-111318260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559513806	chr8:111318277-111318278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs16880591	chr8:111318296-111318297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	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
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
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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111311000-111322400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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