Variant report

Variant	esv16389
Chromosome Location	chr1:76610720-76613917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564420312	chr1:76610722-76610723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17098183	chr1:76610742-76610743	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs143290267	chr1:76610743-76610744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147514986	chr1:76610748-76610749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72992685	chr1:76610753-76610754	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375506630	chr1:76610925-76610926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547402826	chr1:76610926-76610927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116045898	chr1:76611017-76611018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539440803	chr1:76611077-76611078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186981890	chr1:76611078-76611079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372646944	chr1:76611105-76611106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1335737	chr1:76611120-76611121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192805131	chr1:76611159-76611160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557953735	chr1:76611162-76611163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555580134	chr1:76611185-76611186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573781262	chr1:76611214-76611215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376738585	chr1:76611216-76611217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565498542	chr1:76611220-76611221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370566393	chr1:76611230-76611231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541155072	chr1:76611231-76611232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148128777	chr1:76611254-76611255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577921785	chr1:76611273-76611274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371490	chr1:76611275-76611276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564181569	chr1:76611333-76611334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578144138	chr1:76611380-76611381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537254878	chr1:76611426-76611427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141204176	chr1:76611429-76611430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150743880	chr1:76611432-76611433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs432980	chr1:76611435-76611436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547487765	chr1:76611520-76611521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184301387	chr1:76611528-76611529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139060162	chr1:76611562-76611563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551401400	chr1:76611566-76611567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189202919	chr1:76611567-76611568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12736289	chr1:76611569-76611570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs143980442	chr1:76611581-76611582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555518257	chr1:76611637-76611638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567489423	chr1:76611697-76611698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2992502	chr1:76611703-76611704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553150216	chr1:76611705-76611706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549289107	chr1:76611755-76611756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578050518	chr1:76611807-76611808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs486453	chr1:76611833-76611834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561390181	chr1:76611851-76611852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146038590	chr1:76611853-76611854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139983062	chr1:76611872-76611873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs392809	chr1:76612002-76612003	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573847151	chr1:76612023-76612024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76458068	chr1:76612047-76612048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11162087	chr1:76612053-76612054	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76576600-76620000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76588200-76615600	Weak transcription	Left Ventricle	heart
3	chr1:76592600-76610800	Weak transcription	Fetal Kidney	kidney
4	chr1:76594600-76615400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:76599800-76620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:76606200-76613400	Weak transcription	Brain Anterior Caudate	brain
7	chr1:76606200-76614800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:76606200-76620000	Weak transcription	Spleen	Spleen
9	chr1:76607600-76616000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:76608000-76620200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:76608200-76620200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:76608200-76620200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:76608400-76613200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:76608600-76612200	Enhancers	Ovary	ovary
15	chr1:76608600-76613000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:76608600-76616400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:76608800-76611200	Enhancers	Adipose Nuclei	Adipose
18	chr1:76608800-76611200	Enhancers	Fetal Intestine Small	intestine
19	chr1:76608800-76611600	Weak transcription	Brain Substantia Nigra	brain
20	chr1:76608800-76615600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:76609000-76611000	Enhancers	Fetal Lung	lung
22	chr1:76609000-76611600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:76609200-76612000	Weak transcription	Fetal Brain Male	brain
24	chr1:76609800-76616800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:76610000-76610800	Weak transcription	Stomach Mucosa	stomach
26	chr1:76610000-76612600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:76610000-76616400	Weak transcription	Right Atrium	heart
28	chr1:76610200-76611200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:76610400-76611000	Weak transcription	Fetal Intestine Large	intestine
30	chr1:76610600-76611000	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:76610800-76611000	Enhancers	Stomach Mucosa	stomach
32	chr1:76610800-76612200	Enhancers	Fetal Kidney	kidney
33	chr1:76611000-76611200	Enhancers	Fetal Intestine Large	intestine
34	chr1:76611000-76614800	Enhancers	Brain Hippocampus Middle	brain
35	chr1:76611000-76620000	Weak transcription	Fetal Lung	lung
36	chr1:76611600-76612200	Enhancers	Brain Substantia Nigra	brain
37	chr1:76611600-76612400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:76612000-76612600	Enhancers	Fetal Brain Male	brain
39	chr1:76612200-76613200	Weak transcription	Brain Substantia Nigra	brain
40	chr1:76612600-76613000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:76613000-76613600	Enhancers	Brain Cingulate Gyrus	brain
42	chr1:76613000-76616600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:76613200-76613400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:76613200-76617400	Enhancers	Brain Substantia Nigra	brain
45	chr1:76613400-76613600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr1:76613400-76613600	Enhancers	Small Intestine	intestine
47	chr1:76613400-76614400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:76613400-76616800	Enhancers	Brain Anterior Caudate	brain
49	chr1:76613600-76613800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr1:76613600-76614400	Weak transcription	Brain Cingulate Gyrus	brain

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