Variant report

Variant	nsv1024575
Chromosome Location	chr8:59101248-59141010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:59133453..59136419-chr8:59140412..59142414,2	MCF-7	breast:
2	chr8:59129638..59131864-chr8:59132963..59136157,3	MCF-7	breast:
3	chr8:59129638..59131864-chr8:59132963..59136157,3	MCF-7	breast:
4	chr8:59129262..59132109-chr8:59140348..59143090,2	K562	blood:
5	chr8:59107209..59109473-chr8:59113405..59116063,2	MCF-7	breast:
6	chr8:59102071..59103829-chr8:59104945..59107141,2	MCF-7	breast:
7	chr8:59102071..59103829-chr8:59104945..59107141,2	MCF-7	breast:
8	chr8:59140490..59142324-chr8:59162430..59165375,2	K562	blood:
9	chr8:59129648..59132534-chr8:59134074..59137163,3	MCF-7	breast:
10	chr8:59048243..59051186-chr8:59103194..59104738,2	MCF-7	breast:
11	chr8:58907950..58910794-chr8:59140861..59142704,2	MCF-7	breast:
12	chr8:59032115..59032698-chr8:59133894..59134462,2	MCF-7	breast:
13	chr8:59135696..59137978-chr8:59143213..59145224,2	K562	blood:
14	chr8:58909223..58911997-chr8:59106137..59108428,2	MCF-7	breast:
15	chr8:59097851..59098527-chr8:59117435..59118287,2	MCF-7	breast:
16	chr8:59107209..59109473-chr8:59113405..59116063,2	MCF-7	breast:
17	chr8:59132736..59134762-chr8:59135375..59137052,2	MCF-7	breast:
18	chr8:59106915..59110868-chr8:59145602..59149155,4	MCF-7	breast:
19	chr8:59129648..59132534-chr8:59134074..59137163,3	MCF-7	breast:
20	chr8:59133453..59136419-chr8:59140412..59142414,2	MCF-7	breast:
21	chr8:59129262..59132109-chr8:59140348..59143090,2	K562	blood:
22	chr8:59132736..59134762-chr8:59135375..59137052,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM110B-1	chr8:59130956-59132420	NONHSAT126775
2	lnc-FAM110B-1	chr8:59129760-59129804	NONHSAT126775
3	lnc-FAM110B-1	chr8:59110390-59110651	NONHSAT126770
4	lnc-FAM110B-1	chr8:59110390-59110716	NONHSAT126766
5	lnc-FAM110B-1	chr8:59116115-59116265	XLOC_006810
6	lnc-FAM110B-1	chr8:59116074-59116838	NONHSAT126766
7	lnc-FAM110B-1	chr8:59101877-59101975	NONHSAT126770
8	lnc-FAM110B-1	chr8:59131474-59131915	XLOC_006810
9	lnc-FAM110B-1	chr8:59129761-59129804	XLOC_006810
10	lnc-FAM110B-1	chr8:59131474-59131635	XLOC_006810

No data

Variant related genes	Relation type
IL6ST	miRNA target sites
REEP3	miRNA target sites

Extended variants
information (count: 1556 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1556 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558415954	chr8:59101254-59101255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190072367	chr8:59101258-59101259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537403143	chr8:59101314-59101315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557043867	chr8:59101345-59101346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7015719	chr8:59101346-59101347	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542708874	chr8:59101359-59101360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577255746	chr8:59101373-59101374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141928908	chr8:59101382-59101383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184290598	chr8:59101414-59101415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572685476	chr8:59101444-59101445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188595078	chr8:59101477-59101478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149907952	chr8:59101490-59101491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10808688	chr8:59101491-59101492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544154845	chr8:59101493-59101494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560860647	chr8:59101540-59101541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10808689	chr8:59101577-59101578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562337785	chr8:59101624-59101625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546699412	chr8:59101664-59101665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181073915	chr8:59101679-59101680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146742307	chr8:59101709-59101710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528654168	chr8:59101730-59101731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115380390	chr8:59101755-59101756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571868068	chr8:59101778-59101779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537333211	chr8:59101795-59101796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34263585	chr8:59101855-59101856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148182941	chr8:59101871-59101872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556980996	chr8:59101900-59101901	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs567299676	chr8:59101915-59101916	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs74721518	chr8:59101929-59101930	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs553014851	chr8:59101981-59101982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572975219	chr8:59101992-59101993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545142017	chr8:59102064-59102065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185918912	chr8:59102080-59102081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558587415	chr8:59102093-59102094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575536288	chr8:59102094-59102095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189298169	chr8:59102123-59102124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182150196	chr8:59102168-59102169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529701127	chr8:59102217-59102218	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563430651	chr8:59102226-59102227	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540347885	chr8:59102251-59102252	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs560240150	chr8:59102276-59102277	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs528684328	chr8:59102289-59102290	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551989829	chr8:59102305-59102306	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs187271299	chr8:59102359-59102360	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191655980	chr8:59102387-59102388	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs145300317	chr8:59102437-59102438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550845344	chr8:59102442-59102443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567338995	chr8:59102451-59102452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536216458	chr8:59102469-59102470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376158987	chr8:59102471-59102472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59093200-59103200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:59093400-59105600	Weak transcription	HMEC	breast
3	chr8:59098600-59104000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:59100400-59101400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:59100400-59103400	Weak transcription	Fetal Stomach	stomach
6	chr8:59100400-59104000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:59100800-59104600	Weak transcription	Fetal Brain Male	brain
8	chr8:59101000-59101400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:59101400-59101800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:59101800-59102200	Enhancers	GM12878-XiMat	blood
11	chr8:59101800-59104000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:59102200-59102400	Flanking Active TSS	GM12878-XiMat	blood
13	chr8:59102400-59102600	Enhancers	GM12878-XiMat	blood
14	chr8:59102600-59102800	Flanking Active TSS	GM12878-XiMat	blood
15	chr8:59102600-59102800	Enhancers	NHDF-Ad	bronchial
16	chr8:59102800-59103000	Enhancers	GM12878-XiMat	blood
17	chr8:59102800-59104000	Weak transcription	NHDF-Ad	bronchial
18	chr8:59103200-59103800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:59103400-59104800	Enhancers	Colon Smooth Muscle	Colon
20	chr8:59103400-59105000	Enhancers	Fetal Stomach	stomach
21	chr8:59103800-59110400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:59104000-59104400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:59104000-59104400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:59104000-59104600	Enhancers	Fetal Lung	lung
25	chr8:59104000-59104800	Enhancers	NHDF-Ad	bronchial
26	chr8:59104000-59105200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:59104000-59105800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:59104200-59104600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:59104200-59105000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:59104200-59105200	Enhancers	Rectal Smooth Muscle	rectum
31	chr8:59104200-59105800	Enhancers	NH-A	brain
32	chr8:59104400-59104800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr8:59104400-59105000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:59104400-59105000	Enhancers	Placenta	Placenta
35	chr8:59104400-59105600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:59104400-59105600	Enhancers	Fetal Heart	heart
37	chr8:59104400-59108400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:59104400-59116200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:59104600-59105000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:59104600-59105200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:59104800-59105200	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:59104800-59105600	Enhancers	HSMM	muscle
43	chr8:59104800-59105800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr8:59104800-59106600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:59104800-59108000	Weak transcription	NHDF-Ad	bronchial
46	chr8:59105000-59105200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:59105000-59105800	Weak transcription	Placenta	Placenta
48	chr8:59105000-59108200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:59105000-59109800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:59105000-59110000	Weak transcription	Fetal Stomach	stomach

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