Variant report

Variant	esv13604
Chromosome Location	chr1:84895834-84899546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84894566..84897091-chr1:84898003..84900258,2	K562	blood:
2	chr1:84888633..84891010-chr1:84899091..84900892,2	K562	blood:
3	chr1:84894566..84897091-chr1:84898003..84900258,2	K562	blood:
4	chr1:84606627..84607493-chr1:84899132..84900125,4	MCF-7	breast:

Extended variants
information (count: 134 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60961285	chr1:84895975-84895976	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564897122	chr1:84895989-84895990	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192398979	chr1:84895990-84895991	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139977345	chr1:84896009-84896010	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1340596	chr1:84896033-84896034	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7512262	chr1:84896062-84896063	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs546799037	chr1:84896081-84896082	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112300317	chr1:84896147-84896148	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185549674	chr1:84896195-84896196	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558008992	chr1:84896202-84896203	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149864233	chr1:84896246-84896247	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555541417	chr1:84896312-84896313	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575296831	chr1:84896328-84896329	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537054364	chr1:84896333-84896334	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557605410	chr1:84896336-84896337	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574009965	chr1:84896363-84896364	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371500539	chr1:84896440-84896441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7514800	chr1:84896441-84896442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs566215758	chr1:84896505-84896506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577950572	chr1:84896538-84896539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540304532	chr1:84896554-84896555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145801506	chr1:84896605-84896606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545080029	chr1:84896611-84896612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534896474	chr1:84896633-84896634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564840046	chr1:84896644-84896645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs66698224	chr1:84896709-84896710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397775624	chr1:84896722-84896723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575146887	chr1:84896729-84896730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372387904	chr1:84896773-84896774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139723387	chr1:84896797-84896798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375159954	chr1:84896848-84896849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546962537	chr1:84896851-84896852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545667804	chr1:84896939-84896940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201738300	chr1:84896942-84896943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528352697	chr1:84896943-84896944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548358591	chr1:84896950-84896951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397719117	chr1:84896952-84896953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551805204	chr1:84897054-84897055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537026246	chr1:84897125-84897126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544862964	chr1:84897145-84897146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4907066	chr1:84897195-84897196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550685675	chr1:84897202-84897203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190519061	chr1:84897233-84897234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181738863	chr1:84897276-84897277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530593180	chr1:84897298-84897299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550627478	chr1:84897313-84897314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1959757	chr1:84897327-84897328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs55714012	chr1:84897353-84897354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12741702	chr1:84897376-84897377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377612013	chr1:84897386-84897387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	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
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84892600-84896000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:84893400-84898800	Weak transcription	HUVEC	blood vessel
3	chr1:84893400-84902400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:84893600-84898800	Weak transcription	NH-A	brain
5	chr1:84893600-84899000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:84893600-84899000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:84893800-84899200	Weak transcription	Stomach Mucosa	stomach
8	chr1:84894000-84898400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:84895400-84896400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:84895400-84899000	Weak transcription	Hela-S3	cervix
11	chr1:84895800-84899400	Weak transcription	Aorta	Aorta
12	chr1:84896000-84896800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:84896000-84896800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:84896200-84896400	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr1:84896400-84899000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:84896400-84899000	Weak transcription	Primary T cells from cord blood	blood
17	chr1:84896800-84899000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:84896800-84899000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:84898400-84898800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:84898400-84903000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:84898600-84898800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:84898800-84899000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:84898800-84899000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:84898800-84899000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:84898800-84899000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:84898800-84899000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr1:84898800-84899000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:84898800-84899000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:84898800-84899000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:84898800-84899000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:84898800-84899000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:84898800-84899000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:84898800-84899000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:84898800-84899000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:84898800-84899000	Enhancers	Brain Cingulate Gyrus	brain
36	chr1:84898800-84899000	Enhancers	Duodenum Mucosa	Duodenum
37	chr1:84898800-84899000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:84898800-84899000	Enhancers	Fetal Intestine Small	intestine
39	chr1:84898800-84899000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:84898800-84899000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:84898800-84899000	Enhancers	Dnd41	blood
42	chr1:84898800-84899000	Enhancers	HUVEC	blood vessel
43	chr1:84898800-84899000	Enhancers	NH-A	brain
44	chr1:84898800-84899000	Enhancers	NHDF-Ad	bronchial
45	chr1:84898800-84899000	Enhancers	Osteobl	bone
46	chr1:84898800-84899200	Enhancers	Liver	Liver
47	chr1:84898800-84899600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:84898800-84899800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr1:84899000-84899200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:84899000-84899200	Enhancers	Primary monocytes fromperipheralblood	blood

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