Variant report

Variant	esv3399888
Chromosome Location	chr8:19778982-19779476
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	chr8:19777298..19780143-chr8:19794584..19796996,2	K562	blood:

Variant related genes	Relation type
ENSG00000175445	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534698839	chr8:19778985-19778986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187150179	chr8:19779051-19779052	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372907191	chr8:19779148-19779149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs578015959	chr8:19779223-19779224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533763490	chr8:19779231-19779232	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150978932	chr8:19779236-19779237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190819729	chr8:19779256-19779257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs28568947	chr8:19779304-19779305	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140907855	chr8:19779305-19779306	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs36192560	chr8:19779309-19779310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs36192968	chr8:19779311-19779312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190405482	chr8:19779345-19779346	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561239907	chr8:19779351-19779352	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76372533	chr8:19779357-19779358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375927835	chr8:19779366-19779367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547055853	chr8:19779372-19779373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559323093	chr8:19779377-19779378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532854522	chr8:19779382-19779383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551512049	chr8:19779386-19779387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs56724957	chr8:19779399-19779400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34703679	chr8:19779407-19779408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569819153	chr8:19779411-19779412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542427638	chr8:19779436-19779437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs146744379	chr8:19779437-19779438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549239879	chr8:19779460-19779461	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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