Variant report

Variant	nsv824528
Chromosome Location	chr8:8855215-8855763
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	chr8:8846981..8849867-chr8:8855018..8857394,2	K562	blood:
2	chr8:8853838..8855733-chr8:8866935..8869612,2	K562	blood:

Variant related genes	Relation type
ENSG00000104626	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529129750	chr8:8855219-8855220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549245641	chr8:8855220-8855221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150154499	chr8:8855221-8855222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528388320	chr8:8855231-8855232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547433500	chr8:8855258-8855259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187384125	chr8:8855307-8855308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191750282	chr8:8855335-8855336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138615880	chr8:8855344-8855345	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569896004	chr8:8855350-8855351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535708726	chr8:8855369-8855370	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556019803	chr8:8855382-8855383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73518392	chr8:8855389-8855390	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs199823213	chr8:8855396-8855397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200788787	chr8:8855400-8855401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75520267	chr8:8855401-8855402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs79552017	chr8:8855402-8855403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77553619	chr8:8855404-8855405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs33912985	chr8:8855405-8855406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs386412019	chr8:8855408-8855409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs71201903	chr8:8855411-8855412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370205002	chr8:8855412-8855413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7357601	chr8:8855439-8855440	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572168555	chr8:8855445-8855446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183579889	chr8:8855454-8855455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188132266	chr8:8855503-8855504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374770790	chr8:8855510-8855511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4081881	chr8:8855519-8855520	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs79005889	chr8:8855524-8855525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs6422353	chr8:8855536-8855537	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528340129	chr8:8855552-8855553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551675934	chr8:8855558-8855559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2409119	chr8:8855594-8855595	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs137991108	chr8:8855649-8855650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549851687	chr8:8855671-8855672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190338396	chr8:8855677-8855678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535946410	chr8:8855678-8855679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554680030	chr8:8855701-8855702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73662265	chr8:8855711-8855712	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369007431	chr8:8855730-8855731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534981323	chr8:8855763-8855764	Weak transcription	n/a	n/a	Overlapped CNVs	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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