Variant report

Variant	esv2753238
Chromosome Location	chr8:51776447-51883447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:
2	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:

Extended variants
information (count: 890 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:890 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567945169	chr8:51776450-51776451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150662279	chr8:51776461-51776462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553508703	chr8:51776469-51776470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4633069	chr8:51776485-51776486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs377359484	chr8:51776497-51776498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550506117	chr8:51776543-51776544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539751948	chr8:51776569-51776570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567197936	chr8:51776625-51776626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140116755	chr8:51776660-51776661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576334291	chr8:51776798-51776799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186161607	chr8:51776804-51776805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556586829	chr8:51776853-51776854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574861520	chr8:51776855-51776856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546303370	chr8:51776913-51776914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542162408	chr8:51776928-51776929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143906443	chr8:51776936-51776937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76063351	chr8:51777126-51777127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546133788	chr8:51777137-51777138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139834978	chr8:51777198-51777199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73677591	chr8:51777205-51777206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531819461	chr8:51777209-51777210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549974607	chr8:51777210-51777211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35383376	chr8:51777234-51777235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568119160	chr8:51777249-51777250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7841428	chr8:51777277-51777278	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547328822	chr8:51777280-51777281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370941227	chr8:51777303-51777304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565579262	chr8:51777321-51777322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539723955	chr8:51777344-51777345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558119163	chr8:51777345-51777346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558679182	chr8:51777348-51777349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569982930	chr8:51777354-51777355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537217811	chr8:51777366-51777367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115385486	chr8:51777367-51777368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189357696	chr8:51777392-51777393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146407668	chr8:51780493-51780494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568592531	chr8:51780499-51780500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571920184	chr8:51780509-51780510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539346843	chr8:51780519-51780520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182714839	chr8:51780530-51780531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550885320	chr8:51780535-51780536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569481331	chr8:51780591-51780592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535943735	chr8:51780596-51780597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139747698	chr8:51780603-51780604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554683143	chr8:51780616-51780617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572874417	chr8:51780636-51780637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142079780	chr8:51780648-51780649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536774053	chr8:51780703-51780704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558139973	chr8:51780734-51780735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576718024	chr8:51780749-51780750	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51773600-51777200	Weak transcription	Fetal Lung	lung
2	chr8:51777200-51777400	Enhancers	Fetal Lung	lung
3	chr8:51780400-51781600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:51793600-51794200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:51798000-51800000	Enhancers	Dnd41	blood
6	chr8:51798400-51799400	Enhancers	Brain Germinal Matrix	brain
7	chr8:51798400-51800000	Enhancers	Fetal Muscle Leg	muscle
8	chr8:51798600-51798800	Enhancers	Fetal Lung	lung
9	chr8:51798600-51799800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:51798600-51799800	Enhancers	Fetal Brain Female	brain
11	chr8:51798800-51799200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr8:51798800-51799200	Flanking Active TSS	Fetal Lung	lung
13	chr8:51798800-51799400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:51798800-51799600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:51798800-51799800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:51798800-51800000	Enhancers	Fetal Brain Male	brain
17	chr8:51798800-51800000	Enhancers	Fetal Stomach	stomach
18	chr8:51799000-51799200	Enhancers	Brain Substantia Nigra	brain
19	chr8:51799000-51799400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:51799000-51799600	Active TSS	Fetal Muscle Trunk	muscle
21	chr8:51799200-51799400	Active TSS	Brain Cingulate Gyrus	brain
22	chr8:51799200-51799600	Enhancers	Brain Angular Gyrus	brain
23	chr8:51799200-51799600	Enhancers	Brain Anterior Caudate	brain
24	chr8:51799200-51799600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:51799200-51799600	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr8:51799200-51799600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr8:51799200-51799600	Active TSS	Fetal Lung	lung
28	chr8:51799200-51799800	Enhancers	Adipose Nuclei	Adipose
29	chr8:51799200-51799800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr8:51799400-51799800	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr8:51799400-51799800	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr8:51799600-51799800	Enhancers	Brain Substantia Nigra	brain
33	chr8:51799600-51799800	Enhancers	Fetal Lung	lung
34	chr8:51807200-51808000	Enhancers	Fetal Brain Male	brain
35	chr8:51807600-51810600	Weak transcription	Fetal Lung	lung
36	chr8:51810400-51810800	ZNF genes & repeats	Pancreas	Pancrea
37	chr8:51810600-51811000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr8:51810600-51811800	Enhancers	Fetal Lung	lung
39	chr8:51811000-51811600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:51811800-51816400	Weak transcription	Fetal Lung	lung
41	chr8:51816400-51817400	Enhancers	Fetal Lung	lung
42	chr8:51823400-51823600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:51823600-51824200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:51823600-51824200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr8:51824200-51825000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:51834200-51836800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr8:51836200-51836600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:51842200-51842800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:51846800-51847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:51857000-51859400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links