Variant report

Variant	esv3328866
Chromosome Location	chr8:49858699-49862897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192331204	chr8:49858712-49858713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199735177	chr8:49858753-49858754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181738350	chr8:49858768-49858769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539817516	chr8:49858811-49858812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185958918	chr8:49858874-49858875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576448142	chr8:49858905-49858906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544022987	chr8:49858947-49858948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555967027	chr8:49858959-49858960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574275660	chr8:49858965-49858966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535975788	chr8:49858970-49858971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541761089	chr8:49858988-49858989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560391455	chr8:49859003-49859004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370202688	chr8:49859004-49859005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527289196	chr8:49859006-49859007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545740680	chr8:49859014-49859015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564044449	chr8:49859019-49859020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531408894	chr8:49859030-49859031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190372002	chr8:49859031-49859032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151207076	chr8:49859078-49859079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139153658	chr8:49859108-49859109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374495162	chr8:49859185-49859186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149945231	chr8:49859186-49859187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539460000	chr8:49859200-49859201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558104320	chr8:49859201-49859202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569928880	chr8:49859294-49859295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568289442	chr8:49859313-49859314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537181908	chr8:49859323-49859324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73579320	chr8:49859324-49859325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574336385	chr8:49859379-49859380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541576049	chr8:49859383-49859384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115298219	chr8:49859410-49859411	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs182624999	chr8:49859478-49859479	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545506145	chr8:49859493-49859494	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564140229	chr8:49859525-49859526	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs531319081	chr8:49859534-49859535	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113593551	chr8:49859561-49859562	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs72640582	chr8:49859565-49859566	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561764436	chr8:49859629-49859630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535652716	chr8:49859633-49859634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185451072	chr8:49859674-49859675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190934088	chr8:49859740-49859741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570416234	chr8:49859797-49859798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566265119	chr8:49859799-49859800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539461172	chr8:49859816-49859817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533708299	chr8:49859835-49859836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558443204	chr8:49859840-49859841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77175563	chr8:49859841-49859842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182878086	chr8:49859896-49859897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144654460	chr8:49859989-49859990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573327292	chr8:49860004-49860005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49851000-49859800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:49857800-49859000	Enhancers	Liver	Liver
3	chr8:49859000-49860200	Weak transcription	Liver	Liver
4	chr8:49859400-49859600	Active TSS	Fetal Brain Male	brain
5	chr8:49859400-49860000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:49859600-49860000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr8:49859600-49860800	Weak transcription	Fetal Brain Male	brain
8	chr8:49859800-49865000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr8:49860000-49860400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:49860000-49860400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:49860000-49864800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:49860200-49861000	Enhancers	Liver	Liver
13	chr8:49860200-49861800	Enhancers	Primary T cells from cord blood	blood
14	chr8:49860200-49864400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr8:49860200-49864400	Enhancers	Thymus	Thymus
16	chr8:49860200-49864800	Enhancers	Dnd41	blood
17	chr8:49860200-49865000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:49860200-49866000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:49860400-49860600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:49860400-49861800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr8:49860400-49862200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:49860400-49864400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr8:49860400-49864400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:49860400-49864800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:49860400-49865200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:49860600-49861000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:49860600-49861000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:49860600-49861000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:49860600-49861000	Enhancers	Gastric	stomach
30	chr8:49860600-49861000	ZNF genes & repeats	Pancreas	Pancrea
31	chr8:49860600-49861800	Enhancers	GM12878-XiMat	blood
32	chr8:49860600-49864800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr8:49860600-49864800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr8:49860800-49861000	ZNF genes & repeats	Esophagus	oesophagus
35	chr8:49860800-49861000	ZNF genes & repeats	Fetal Brain Male	brain
36	chr8:49860800-49861000	ZNF genes & repeats	Fetal Kidney	kidney
37	chr8:49860800-49861000	Enhancers	Spleen	Spleen
38	chr8:49860800-49864400	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:49860800-49864400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr8:49861000-49862000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:49861000-49862200	Weak transcription	Esophagus	oesophagus
42	chr8:49861000-49862200	Weak transcription	Pancreas	Pancrea
43	chr8:49861000-49863400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:49861000-49863400	Weak transcription	Spleen	Spleen
45	chr8:49861000-49863800	Enhancers	Fetal Thymus	thymus
46	chr8:49861000-49865400	Weak transcription	Gastric	stomach
47	chr8:49861200-49861400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:49861800-49862000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:49861800-49862200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr8:49861800-49862200	Flanking Active TSS	GM12878-XiMat	blood

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