Variant report

Variant	nsv8363
Chromosome Location	chr8:86951247-86955816
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:86853963..86856698-chr8:86950908..86953530,2	K562	blood:
2	chr8:86950422..86952782-chr8:86955614..86957820,2	K562	blood:
3	chr8:86950422..86952782-chr8:86955614..86957820,2	K562	blood:
4	chr8:86949231..86952070-chr8:86985178..86988129,3	K562	blood:
5	chr8:86940072..86942220-chr8:86955677..86957654,2	MCF-7	breast:
6	chr8:86853963..86856746-chr8:86949985..86952408,2	K562	blood:
7	chr8:86954040..86956483-chr8:86959021..86960804,2	MCF-7	breast:
8	chr8:86864951..86867156-chr8:86950288..86952196,2	K562	blood:
9	chr8:86939167..86942438-chr8:86955130..86957986,3	K562	blood:
10	chr8:86954541..86958539-chr8:86967866..86971092,3	K562	blood:

No data

Extended variants
information (count: 161 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs552197913	chr8:86951275-86951276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568999159	chr8:86951313-86951314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537668815	chr8:86951355-86951356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554777477	chr8:86951448-86951449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568052568	chr8:86951449-86951450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533686159	chr8:86951468-86951469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553305041	chr8:86951477-86951478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372280817	chr8:86951484-86951485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576438637	chr8:86951491-86951492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538908901	chr8:86951506-86951507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374343414	chr8:86951507-86951508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559005880	chr8:86951515-86951516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575919907	chr8:86951533-86951534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544461745	chr8:86951536-86951537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57029033	chr8:86951547-86951548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372187267	chr8:86951561-86951562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574985280	chr8:86951580-86951581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540736617	chr8:86951587-86951588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560480964	chr8:86951589-86951590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532566394	chr8:86951590-86951591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77570783	chr8:86951591-86951592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370706431	chr8:86951593-86951594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552419582	chr8:86951596-86951597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562619805	chr8:86951621-86951622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531672220	chr8:86951622-86951623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562884631	chr8:86951655-86951656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181126237	chr8:86951697-86951698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185968614	chr8:86951752-86951753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548343523	chr8:86951787-86951788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142926559	chr8:86951847-86951848	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs11987022	chr8:86951857-86951858	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539023571	chr8:86951871-86951872	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs190930361	chr8:86951893-86951894	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs575840763	chr8:86951923-86951924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs77314102	chr8:86951931-86951932	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182191932	chr8:86951954-86951955	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114346970	chr8:86951967-86951968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs146126144	chr8:86952014-86952015	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs186551855	chr8:86952069-86952070	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs375527147	chr8:86952075-86952076	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs560590456	chr8:86952139-86952140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs80118288	chr8:86952201-86952202	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs577444073	chr8:86952210-86952211	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs545863729	chr8:86952317-86952318	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs2912489	chr8:86952332-86952333	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs562946801	chr8:86952343-86952344	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs560560893	chr8:86952413-86952414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140051595	chr8:86952454-86952455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369151852	chr8:86952455-86952456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78108970	chr8:86952516-86952517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86946400-86951800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:86947800-86951400	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:86949600-86951800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:86949600-86952400	Enhancers	Fetal Lung	lung
5	chr8:86949800-86951800	Enhancers	Fetal Stomach	stomach
6	chr8:86950000-86952400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:86950200-86952200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:86950200-86952800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:86950200-86952800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:86950400-86952200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:86950400-86952200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:86950800-86951600	Enhancers	Lung	lung
13	chr8:86950800-86951800	Enhancers	Placenta	Placenta
14	chr8:86950800-86952200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:86950800-86952200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:86950800-86952400	Enhancers	Colon Smooth Muscle	Colon
17	chr8:86950800-86952800	Enhancers	Ovary	ovary
18	chr8:86951000-86951600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:86951000-86952000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:86951000-86952200	Enhancers	Brain Anterior Caudate	brain
21	chr8:86951000-86952600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:86951200-86951600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:86951200-86951800	Enhancers	K562	blood
24	chr8:86951400-86952200	Enhancers	Brain Hippocampus Middle	brain
25	chr8:86951600-86951800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:86951600-86952000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:86951600-86952000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:86951600-86952000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:86951600-86952000	Enhancers	Brain Angular Gyrus	brain
30	chr8:86951600-86952000	Enhancers	Brain Substantia Nigra	brain
31	chr8:86951600-86952200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:86951600-86952200	Enhancers	Stomach Smooth Muscle	stomach
33	chr8:86951600-86952400	Weak transcription	Lung	lung
34	chr8:86951600-86952400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr8:86951800-86952200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:86951800-86952200	Enhancers	Fetal Intestine Small	intestine
37	chr8:86951800-86952400	Flanking Active TSS	K562	blood
38	chr8:86952000-86952200	Enhancers	Hela-S3	cervix
39	chr8:86952000-86952400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr8:86952400-86953400	Enhancers	K562	blood
41	chr8:86952600-86952800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:86952600-86952800	Enhancers	Lung	lung
43	chr8:86952800-86955200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:86953400-86953800	Weak transcription	K562	blood
45	chr8:86953800-86954000	Enhancers	K562	blood
46	chr8:86954000-86956200	Weak transcription	K562	blood
47	chr8:86955200-86958400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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