Variant report

Variant	esv3367053
Chromosome Location	chr1:76576214-76580012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142376817	chr1:76576235-76576236	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs429626	chr1:76576237-76576238	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs415189	chr1:76576286-76576287	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551859970	chr1:76576298-76576299	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs405932	chr1:76576334-76576335	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs537864402	chr1:76576369-76576370	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs115252755	chr1:76576390-76576391	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs151271395	chr1:76576398-76576399	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs141578369	chr1:76576399-76576400	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541532927	chr1:76576426-76576427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs389889	chr1:76576456-76576457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191170741	chr1:76576477-76576478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75590761	chr1:76576549-76576550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184739936	chr1:76576662-76576663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187546082	chr1:76576679-76576680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147029894	chr1:76576684-76576685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543772509	chr1:76576721-76576722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115450271	chr1:76576730-76576731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374425732	chr1:76576743-76576744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138264020	chr1:76576746-76576747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371788826	chr1:76576791-76576792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541760801	chr1:76576804-76576805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559912724	chr1:76576806-76576807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386632546	chr1:76576837-76576838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2706204	chr1:76576839-76576840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192282710	chr1:76576843-76576844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578001491	chr1:76576874-76576875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185126244	chr1:76576877-76576878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79281499	chr1:76576908-76576909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11461241	chr1:76576928-76576929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs67211489	chr1:76576929-76576930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549713646	chr1:76576972-76576973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189975583	chr1:76576989-76576990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568517982	chr1:76577007-76577008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202000534	chr1:76577013-76577014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536146616	chr1:76577015-76577016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548151438	chr1:76577096-76577097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572131805	chr1:76577115-76577116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78467964	chr1:76577124-76577125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10615636	chr1:76577125-76577126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557656911	chr1:76577166-76577167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566262774	chr1:76577173-76577174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540067925	chr1:76577252-76577253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558407054	chr1:76577265-76577266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374182424	chr1:76577268-76577269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368379678	chr1:76577313-76577314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555686117	chr1:76577330-76577331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368655491	chr1:76577336-76577337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571189553	chr1:76577378-76577379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375513128	chr1:76577392-76577393	Weak transcription	n/a	n/a	Overlapped CNVs	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:76557600-76588800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:76572200-76577000	Enhancers	Brain Substantia Nigra	brain
4	chr1:76573400-76576400	Enhancers	Brain Angular Gyrus	brain
5	chr1:76574000-76576800	Enhancers	Brain Anterior Caudate	brain
6	chr1:76574800-76576400	Enhancers	Adipose Nuclei	Adipose
7	chr1:76575000-76576600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:76575000-76577000	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:76575200-76576400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:76575200-76576400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:76575200-76576800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:76575400-76576400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:76575400-76576400	Enhancers	Fetal Lung	lung
14	chr1:76575400-76576800	Enhancers	Brain Hippocampus Middle	brain
15	chr1:76575400-76606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:76575600-76576600	Enhancers	Primary B cells from cord blood	blood
17	chr1:76575600-76579200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:76576000-76583200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:76576200-76576400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:76576200-76576400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:76576200-76576400	Enhancers	Aorta	Aorta
22	chr1:76576200-76576400	Enhancers	Left Ventricle	heart
23	chr1:76576200-76576400	Enhancers	Lung	lung
24	chr1:76576200-76576400	ZNF genes & repeats	Pancreas	Pancrea
25	chr1:76576200-76576800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:76576400-76576800	Enhancers	A549	lung
27	chr1:76576400-76587000	Weak transcription	Left Ventricle	heart
28	chr1:76576400-76591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:76576600-76579200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:76576600-76620000	Weak transcription	Primary B cells from cord blood	blood
31	chr1:76576800-76580600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:76576800-76580800	Weak transcription	Brain Anterior Caudate	brain
33	chr1:76577000-76590800	Weak transcription	Brain Substantia Nigra	brain
34	chr1:76579200-76579400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:76579200-76579800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:76579400-76590800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:76579800-76590800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links