Variant report

Variant	esv3390198
Chromosome Location	chr1:79301864-79302912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546258020	chr1:79301880-79301881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115230924	chr1:79301944-79301945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112437662	chr1:79301966-79301967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532743619	chr1:79301974-79301975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188861531	chr1:79301990-79301991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561698713	chr1:79301991-79301992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529076037	chr1:79301993-79301994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192113622	chr1:79302009-79302010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182785243	chr1:79302077-79302078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78712553	chr1:79302152-79302153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10641326	chr1:79302159-79302160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59438828	chr1:79302175-79302176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199654686	chr1:79302176-79302177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200548165	chr1:79302178-79302179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555545302	chr1:79302189-79302190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201898607	chr1:79302213-79302214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369444160	chr1:79302214-79302215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551116706	chr1:79302224-79302225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200164551	chr1:79302255-79302256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569716525	chr1:79302260-79302261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7533414	chr1:79302268-79302269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530488493	chr1:79302316-79302317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546855368	chr1:79302347-79302348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560334312	chr1:79302391-79302392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529507450	chr1:79302463-79302464	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs187703150	chr1:79302483-79302484	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536063805	chr1:79302570-79302571	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs192869128	chr1:79302607-79302608	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11801068	chr1:79302648-79302649	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566424154	chr1:79302678-79302679	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184049850	chr1:79302699-79302700	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76339406	chr1:79302766-79302767	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370016717	chr1:79302817-79302818	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187230655	chr1:79302862-79302863	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555833762	chr1:79302865-79302866	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs150792925	chr1:79302879-79302880	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs374048307	chr1:79302891-79302892	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79299000-79302400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:79299200-79302600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:79299200-79302600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:79299600-79302600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:79299800-79302400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:79299800-79302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:79300000-79302400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:79300000-79302400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:79300200-79302400	Weak transcription	Osteobl	bone
10	chr1:79300400-79302400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:79300400-79302800	Weak transcription	HUVEC	blood vessel
12	chr1:79300400-79305600	Weak transcription	HSMM	muscle
13	chr1:79301600-79302400	Enhancers	NHDF-Ad	bronchial
14	chr1:79301600-79302600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:79302400-79302600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:79302400-79302600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:79302400-79302600	Enhancers	Dnd41	blood
18	chr1:79302400-79302600	Active TSS	Osteobl	bone
19	chr1:79302400-79302800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:79302400-79302800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:79302400-79302800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:79302400-79302800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:79302400-79303000	Active TSS	Liver	Liver
24	chr1:79302400-79303000	Flanking Active TSS	NHDF-Ad	bronchial
25	chr1:79302400-79303200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:79302600-79302800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr1:79302600-79302800	Flanking Active TSS	Osteobl	bone
28	chr1:79302600-79303000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:79302600-79303000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr1:79302600-79303000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr1:79302600-79303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:79302600-79303000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:79302600-79303000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:79302600-79303000	Enhancers	Duodenum Mucosa	Duodenum
35	chr1:79302600-79303000	Flanking Active TSS	Dnd41	blood
36	chr1:79302600-79303400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:79302800-79303000	Enhancers	HUVEC	blood vessel
38	chr1:79302800-79303200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:79302800-79303400	Enhancers	Osteobl	bone
40	chr1:79302800-79303800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:79302800-79305600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:79302800-79306000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:79302800-79306200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:79302800-79306200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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