Variant report

Variant	nsv610180
Chromosome Location	chr8:8501230-8543324
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8532775..8534463-chr8:8543028..8544705,2	MCF-7	breast:
2	chr8:8501722..8503373-chr8:8506644..8508376,2	K562	blood:
3	chr8:8129344..8132133-chr8:8525629..8527896,2	MCF-7	breast:
4	chr8:8105059..8106011-chr8:8526943..8527953,6	MCF-7	breast:
5	chr8:8467892..8470018-chr8:8516521..8519296,2	MCF-7	breast:
6	chr8:8528265..8529882-chr8:8531395..8534062,2	MCF-7	breast:
7	chr8:8521708..8523657-chr8:8525463..8527209,2	MCF-7	breast:
8	chr8:8527839..8528754-chr8:8592246..8592999,2	K562	blood:
9	chr8:8517125..8519695-chr8:8524278..8527180,2	MCF-7	breast:
10	chr8:8538997..8539534-chr8:8594174..8595039,2	MCF-7	breast:
11	chr8:8527493..8529178-chr8:8594079..8595134,11	MCF-7	breast:
12	chr8:8521708..8523657-chr8:8525463..8527209,2	MCF-7	breast:
13	chr8:8528265..8529882-chr8:8531395..8534062,2	MCF-7	breast:
14	chr8:8484452..8486577-chr8:8508195..8510591,2	MCF-7	breast:
15	chr8:8105365..8106008-chr8:8526894..8527465,2	K562	blood:
16	chr8:8241176..8241736-chr8:8524635..8525188,2	MCF-7	breast:
17	chr8:8243022..8245505-chr8:8514580..8516333,2	MCF-7	breast:
18	chr8:8517125..8519695-chr8:8524278..8527180,2	MCF-7	breast:
19	chr8:8100996..8102500-chr8:8519564..8521241,2	K562	blood:
20	chr8:8532775..8534463-chr8:8543028..8544705,2	MCF-7	breast:
21	chr8:8411777..8414467-chr8:8512420..8515459,3	MCF-7	breast:
22	chr8:8130384..8131365-chr8:8526780..8528280,9	K562	blood:
23	chr8:8536305..8538108-chr8:8559326..8560913,2	MCF-7	breast:
24	chr8:8455617..8458254-chr8:8522777..8525195,2	MCF-7	breast:
25	chr8:8501722..8503373-chr8:8506644..8508376,2	K562	blood:
26	chr8:8502758..8504933-chr8:8507761..8510405,2	MCF-7	breast:
27	chr8:8105578..8107200-chr8:8525517..8527239,2	MCF-7	breast:
28	chr8:8528173..8528908-chr8:8567698..8568456,2	MCF-7	breast:
29	chr8:8527797..8529806-chr8:8592444..8595839,3	MCF-7	breast:
30	chr8:8527857..8528805-chr8:9688247..9689065,2	K562	blood:
31	chr8:8527809..8528658-chr8:8569477..8570252,2	MCF-7	breast:
32	chr8:8130322..8131342-chr8:8527334..8528198,3	MCF-7	breast:
33	chr8:8242334..8244521-chr8:8525850..8528752,3	MCF-7	breast:
34	chr8:8527332..8529283-chr8:8594084..8595110,9	K562	blood:
35	chr8:8502758..8504933-chr8:8507761..8510405,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253981	chromatin interactions
ENSG00000182319	chromatin interactions
ENSG00000253958	chromatin interactions
ENSG00000176305	chromatin interactions

Extended variants
information (count: 2478 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:2478 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4841005	chr8:8501230-8501231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546850181	chr8:8501265-8501266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560310254	chr8:8501283-8501284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532180165	chr8:8501306-8501307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552252057	chr8:8501308-8501309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568816390	chr8:8501310-8501311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7013418	chr8:8501322-8501323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74779462	chr8:8501354-8501355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568440571	chr8:8501374-8501375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534239206	chr8:8501386-8501387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554144563	chr8:8501392-8501393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577374666	chr8:8501394-8501395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539607869	chr8:8501405-8501406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148715318	chr8:8501449-8501450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184759050	chr8:8501462-8501463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4841006	chr8:8501474-8501475	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs376196851	chr8:8501489-8501490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542272833	chr8:8501498-8501499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73506253	chr8:8501499-8501500	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142246190	chr8:8501508-8501509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150786355	chr8:8501511-8501512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188477005	chr8:8501524-8501525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530263594	chr8:8501527-8501528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7008986	chr8:8501529-8501530	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs193077758	chr8:8501532-8501533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570094860	chr8:8501554-8501555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185714417	chr8:8501559-8501560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7013881	chr8:8501571-8501572	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371701933	chr8:8501583-8501584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73506256	chr8:8501586-8501587	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567741588	chr8:8501610-8501611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571236679	chr8:8501623-8501624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548081796	chr8:8501648-8501649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533819392	chr8:8501656-8501657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571047617	chr8:8501674-8501675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7001925	chr8:8501681-8501682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs556459549	chr8:8501686-8501687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570198858	chr8:8501721-8501722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535916916	chr8:8501724-8501725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372050519	chr8:8501739-8501740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535968210	chr8:8501748-8501749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367990315	chr8:8501799-8501800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377146548	chr8:8501800-8501801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189307986	chr8:8501808-8501809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572474156	chr8:8501817-8501818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139315384	chr8:8501826-8501827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573750996	chr8:8501827-8501828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554072359	chr8:8501841-8501842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577057786	chr8:8501850-8501851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144079471	chr8:8501853-8501854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8489200-8513000	Weak transcription	Gastric	stomach
2	chr8:8493400-8506000	Weak transcription	HSMMtube	muscle
3	chr8:8494600-8504600	Weak transcription	Right Atrium	heart
4	chr8:8495000-8503000	Weak transcription	Spleen	Spleen
5	chr8:8495200-8503600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:8497400-8502800	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:8498000-8506600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:8498200-8503600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:8499000-8501400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:8499000-8502400	Weak transcription	Fetal Brain Male	brain
11	chr8:8499000-8502600	Weak transcription	Adipose Nuclei	Adipose
12	chr8:8499000-8504400	Weak transcription	Fetal Kidney	kidney
13	chr8:8499200-8502400	Weak transcription	Fetal Lung	lung
14	chr8:8499200-8502800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:8499200-8502800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:8499200-8502800	Weak transcription	Lung	lung
17	chr8:8499200-8502800	Weak transcription	Pancreas	Pancrea
18	chr8:8500200-8506400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:8500400-8501400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:8500400-8501400	Enhancers	HMEC	breast
21	chr8:8500400-8501600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:8500600-8503000	Weak transcription	Esophagus	oesophagus
23	chr8:8500800-8501600	Enhancers	Hela-S3	cervix
24	chr8:8500800-8501800	Enhancers	A549	lung
25	chr8:8501000-8506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:8501000-8512000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:8501200-8502400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:8501200-8502600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:8501200-8502800	Weak transcription	NHEK	skin
30	chr8:8501400-8501600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:8501400-8502600	Weak transcription	HMEC	breast
32	chr8:8501400-8502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:8501600-8502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:8501800-8502200	Weak transcription	A549	lung
35	chr8:8502200-8502600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:8502200-8503400	Enhancers	A549	lung
37	chr8:8502400-8503200	Enhancers	Fetal Brain Male	brain
38	chr8:8502400-8503400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:8502400-8503400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:8502400-8503400	Enhancers	Fetal Lung	lung
41	chr8:8502400-8503400	Enhancers	NHDF-Ad	bronchial
42	chr8:8502400-8503400	Enhancers	Osteobl	bone
43	chr8:8502600-8503000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:8502600-8503000	Enhancers	Brain Angular Gyrus	brain
45	chr8:8502600-8503000	Enhancers	Fetal Stomach	stomach
46	chr8:8502600-8503200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:8502600-8503200	Enhancers	Adipose Nuclei	Adipose
48	chr8:8502600-8503200	Enhancers	NH-A	brain
49	chr8:8502600-8503400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:8502600-8503400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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