Variant report

Variant	nsv824527
Chromosome Location	chr8:8853976-8855763
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	chr8:8853838..8855733-chr8:8866935..8869612,2	K562	blood:
2	chr8:8846981..8849867-chr8:8855018..8857394,2	K562	blood:

Variant related genes	Relation type
ENSG00000104626	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56014185	chr8:8854033-8854034	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561535539	chr8:8854060-8854061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs60519586	chr8:8854079-8854080	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181891439	chr8:8854109-8854110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs397891601	chr8:8854130-8854131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs397892353	chr8:8854131-8854132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542971504	chr8:8854148-8854149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs3083357	chr8:8854150-8854151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs58252381	chr8:8854162-8854163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570601875	chr8:8854185-8854186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186417913	chr8:8854186-8854187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7839585	chr8:8854235-8854236	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs570014756	chr8:8854241-8854242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535755124	chr8:8854286-8854287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs57552272	chr8:8854327-8854328	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574756825	chr8:8854345-8854346	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534271955	chr8:8854347-8854348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554003249	chr8:8854366-8854367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577354323	chr8:8854381-8854382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74692246	chr8:8854393-8854394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143736801	chr8:8854394-8854395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542669944	chr8:8854401-8854402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs60664964	chr8:8854411-8854412	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189721964	chr8:8854434-8854435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs146810650	chr8:8854470-8854471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140538819	chr8:8854487-8854488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527314918	chr8:8854512-8854513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565375905	chr8:8854537-8854538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144213415	chr8:8854550-8854551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs58254294	chr8:8854566-8854567	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs180716011	chr8:8854577-8854578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs151027103	chr8:8854586-8854587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569878672	chr8:8854599-8854600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79121161	chr8:8854607-8854608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73195780	chr8:8854617-8854618	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568421087	chr8:8854701-8854702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533974415	chr8:8854709-8854710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554231643	chr8:8854792-8854793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576878081	chr8:8854802-8854803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs80252927	chr8:8854841-8854842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368914004	chr8:8854842-8854843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374071529	chr8:8854848-8854849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs55730601	chr8:8854857-8854858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs145443354	chr8:8854875-8854876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35682489	chr8:8854876-8854877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs56328711	chr8:8854877-8854878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185159154	chr8:8854947-8854948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190705589	chr8:8854951-8854952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs56400435	chr8:8854963-8854964	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs73518386	chr8:8855018-8855019	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:135)

Disease	PMID	Source
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
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
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8846600-8859800	Weak transcription	Brain Anterior Caudate	brain
2	chr8:8852400-8856000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:8853000-8857000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:8853000-8858800	Weak transcription	K562	blood
5	chr8:8853200-8856200	Weak transcription	HepG2	liver
6	chr8:8853200-8859600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:8853200-8859600	Weak transcription	A549	lung
8	chr8:8853200-8859600	Weak transcription	GM12878-XiMat	blood
9	chr8:8853200-8859600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:8854000-8859800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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