Variant report

Variant	nsv526887
Chromosome Location	chr8:49724699-49729020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49728836..49731044-chr8:49832275..49835138,2	MCF-7	breast:
2	chr8:49728902..49731441-chr8:49740004..49742138,2	MCF-7	breast:
3	chr8:49726188..49729187-chr8:49729418..49731051,2	MCF-7	breast:
4	chr8:49720879..49722463-chr8:49724840..49727110,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000019549	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11783791	chr8:49724699-49724700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376097398	chr8:49724711-49724712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566116410	chr8:49724774-49724775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561010791	chr8:49724797-49724798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199713234	chr8:49724800-49724801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564080852	chr8:49724812-49724813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551829314	chr8:49724847-49724848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551559807	chr8:49724934-49724935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147215566	chr8:49724935-49724936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146401980	chr8:49724944-49724945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368342114	chr8:49725009-49725010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556821861	chr8:49725010-49725011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563284550	chr8:49725114-49725115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528939053	chr8:49725151-49725152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375386726	chr8:49725209-49725210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73577412	chr8:49725243-49725244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536128456	chr8:49725244-49725245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554234113	chr8:49725249-49725250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572442037	chr8:49725333-49725334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546333681	chr8:49725421-49725422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559430644	chr8:49725527-49725528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140642017	chr8:49725552-49725553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs33963669	chr8:49725553-49725554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3219984	chr8:49725554-49725555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57732939	chr8:49725583-49725584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187994719	chr8:49725615-49725616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576970915	chr8:49725651-49725652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544124250	chr8:49725718-49725719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139123762	chr8:49725733-49725734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182143016	chr8:49725738-49725739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187263884	chr8:49725794-49725795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191649861	chr8:49725795-49725796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527261086	chr8:49725801-49725802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181782411	chr8:49725814-49725815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374359574	chr8:49725891-49725892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531436672	chr8:49725907-49725908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143138884	chr8:49725918-49725919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185820342	chr8:49725965-49725966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528641073	chr8:49725986-49725987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535792391	chr8:49726029-49726030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111263689	chr8:49726030-49726031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554469388	chr8:49726114-49726115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551969568	chr8:49726129-49726130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548964517	chr8:49726145-49726146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190239189	chr8:49726210-49726211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147508791	chr8:49726279-49726280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367553122	chr8:49726314-49726315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543883449	chr8:49726325-49726326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551951139	chr8:49726338-49726339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574548797	chr8:49726362-49726363	Weak transcription	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49723200-49730800	Weak transcription	Spleen	Spleen
2	chr8:49723800-49727000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:49723800-49727200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:49724000-49728600	Weak transcription	Fetal Lung	lung
5	chr8:49724400-49725400	Enhancers	Pancreas	Pancrea
6	chr8:49724400-49730400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:49724600-49727000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:49725400-49726000	Weak transcription	Pancreas	Pancrea
9	chr8:49726000-49726200	Enhancers	Pancreas	Pancrea
10	chr8:49726200-49727000	Weak transcription	Pancreas	Pancrea
11	chr8:49726400-49726800	Enhancers	Osteobl	bone
12	chr8:49726400-49729800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:49726600-49727400	Enhancers	A549	lung
14	chr8:49726600-49729600	Enhancers	Adipose Nuclei	Adipose
15	chr8:49726800-49727000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:49726800-49727800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:49726800-49730600	Weak transcription	Osteobl	bone
18	chr8:49726800-49731200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:49727000-49727400	Enhancers	Aorta	Aorta
20	chr8:49727000-49727400	Enhancers	NH-A	brain
21	chr8:49727000-49728000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:49727000-49728000	Enhancers	Placenta	Placenta
23	chr8:49727000-49728000	Enhancers	Hela-S3	cervix
24	chr8:49727000-49728000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr8:49727000-49728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:49727000-49730000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:49727000-49730000	Enhancers	Pancreas	Pancrea
28	chr8:49727200-49727600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:49727200-49727600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr8:49727200-49729600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:49727400-49730600	Weak transcription	NH-A	brain
32	chr8:49727600-49727800	Enhancers	Esophagus	oesophagus
33	chr8:49727600-49727800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:49727600-49728000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:49727600-49728000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:49727600-49728800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:49727600-49732600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr8:49727800-49728200	Enhancers	NHLF	lung
39	chr8:49727800-49728600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:49727800-49730600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:49727800-49730800	Weak transcription	Esophagus	oesophagus
42	chr8:49728000-49728800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:49728000-49729200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:49728000-49730600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:49728000-49730600	Weak transcription	Hela-S3	cervix
46	chr8:49728000-49731000	Weak transcription	Placenta	Placenta
47	chr8:49728000-49732400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr8:49728200-49728600	Weak transcription	NHLF	lung
49	chr8:49728200-49734000	Enhancers	Fetal Muscle Leg	muscle
50	chr8:49728200-49734400	Enhancers	Fetal Muscle Trunk	muscle

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