Variant report

Variant	esv3692982
Chromosome Location	chr8:50875494-50959622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:50925829..50927969-chr8:50932438..50935189,2	MCF-7	breast:
2	chr8:50947214..50948091-chr8:51310516..51311364,3	MCF-7	breast:
3	chr8:50925829..50927969-chr8:50932438..50935189,2	MCF-7	breast:
4	chr8:50947077..50947745-chr8:51310573..51311162,2	MCF-7	breast:
5	chr8:50906818..50909515-chr8:50916418..50918690,2	K562	blood:
6	chr8:50906818..50909515-chr8:50916418..50918690,2	K562	blood:
7	chr8:50709168..50710848-chr8:50931158..50933465,2	MCF-7	breast:

Extended variants
information (count: 2709 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2709 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs971926	chr8:50875494-50875495	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565426141	chr8:50875543-50875544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570247969	chr8:50875568-50875569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183217614	chr8:50875582-50875583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557506398	chr8:50875595-50875596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576219185	chr8:50875636-50875637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188626981	chr8:50875679-50875680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554270634	chr8:50875690-50875691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149497076	chr8:50875755-50875756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377462115	chr8:50875819-50875820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138977025	chr8:50875842-50875843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76082435	chr8:50875878-50875879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560514320	chr8:50875904-50875905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552638876	chr8:50875908-50875909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374680998	chr8:50875942-50875943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527784278	chr8:50875982-50875983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540066247	chr8:50876040-50876041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537531764	chr8:50876049-50876050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76684955	chr8:50876098-50876099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564506843	chr8:50876123-50876124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531949749	chr8:50876158-50876159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111678720	chr8:50876163-50876164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145967310	chr8:50876194-50876195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6985762	chr8:50876226-50876227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73677828	chr8:50876234-50876235	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568744696	chr8:50876273-50876274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542554413	chr8:50876287-50876288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192924644	chr8:50876337-50876338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12541363	chr8:50876341-50876342	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565362416	chr8:50876355-50876356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139925504	chr8:50876367-50876368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557443406	chr8:50876381-50876382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569721424	chr8:50876410-50876411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537257438	chr8:50876438-50876439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370991253	chr8:50876486-50876487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573872701	chr8:50876487-50876488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141697208	chr8:50876520-50876521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567416874	chr8:50876624-50876625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185508742	chr8:50876687-50876688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545173021	chr8:50876706-50876707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190481444	chr8:50876725-50876726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546286361	chr8:50876767-50876768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558842100	chr8:50876807-50876808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531771474	chr8:50876839-50876840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191300245	chr8:50876843-50876844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375326114	chr8:50876855-50876856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529521165	chr8:50876869-50876870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368301631	chr8:50876877-50876878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7005049	chr8:50876892-50876893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558887275	chr8:50876911-50876912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Lung cancer	18438408	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
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50870400-50875600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:50874400-50876200	Enhancers	Brain Germinal Matrix	brain
3	chr8:50874600-50875600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:50874800-50876000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:50875000-50876000	Enhancers	Fetal Brain Male	brain
6	chr8:50875000-50876000	Enhancers	Fetal Brain Female	brain
7	chr8:50875200-50876000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:50875400-50875800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:50875400-50876000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:50875400-50876000	Enhancers	Fetal Intestine Small	intestine
11	chr8:50875400-50876200	Enhancers	Fetal Intestine Large	intestine
12	chr8:50875400-50876200	Enhancers	Fetal Stomach	stomach
13	chr8:50875400-50876600	Enhancers	Fetal Lung	lung
14	chr8:50875600-50876000	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr8:50875600-50876800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:50875600-50876800	Enhancers	Hela-S3	cervix
17	chr8:50875600-50877000	Enhancers	Ovary	ovary
18	chr8:50875800-50882800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:50876000-50878400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:50876000-50889200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:50878200-50878400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr8:50878400-50882400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:50882400-50883000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr8:50882600-50883400	Enhancers	Fetal Brain Female	brain
25	chr8:50887000-50887600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:50887600-50890000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:50889200-50889600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:50889400-50889800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:50889600-50892000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:50889800-50890800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:50890000-50890200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:50890200-50893600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:50890800-50891000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:50890800-50891200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:50891600-50892400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:50891800-50892400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:50892000-50894000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:50892200-50892600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:50892200-50892600	Enhancers	Liver	Liver
40	chr8:50892200-50892600	Enhancers	Brain Germinal Matrix	brain
41	chr8:50892200-50893000	Enhancers	Fetal Brain Male	brain
42	chr8:50892600-50892800	Flanking Active TSS	Liver	Liver
43	chr8:50892600-50892800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr8:50892600-50893000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:50892600-50893000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:50892600-50893000	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr8:50892600-50893000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr8:50892800-50893000	Enhancers	Brain Anterior Caudate	brain
49	chr8:50892800-50893000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr8:50892800-50893000	Enhancers	Fetal Intestine Small	intestine

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