Variant report

Variant	esv3341392
Chromosome Location	chr1:77940564-77941862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562781896	chr1:77940604-77940605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149196334	chr1:77940680-77940681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548420803	chr1:77940727-77940728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183240181	chr1:77940747-77940748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113526575	chr1:77940751-77940752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552375952	chr1:77940781-77940782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531462369	chr1:77940807-77940808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs67045981	chr1:77940838-77940839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535673093	chr1:77940843-77940844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199863796	chr1:77940853-77940854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35137146	chr1:77940863-77940864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144478022	chr1:77940867-77940868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368133648	chr1:77940869-77940870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201132334	chr1:77940870-77940871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148373998	chr1:77940871-77940872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs66815409	chr1:77940872-77940873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200908055	chr1:77940875-77940876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373906492	chr1:77940876-77940877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200478222	chr1:77940877-77940878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199659760	chr1:77940878-77940879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200878685	chr1:77940880-77940881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75556018	chr1:77940882-77940883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199499154	chr1:77940884-77940885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185861371	chr1:77940905-77940906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34093068	chr1:77940957-77940958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368976357	chr1:77941035-77941036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575690586	chr1:77941042-77941043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71075746	chr1:77941043-77941044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs398102905	chr1:77941044-77941045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111303075	chr1:77941048-77941049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11577058	chr1:77941054-77941055	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557757697	chr1:77941064-77941065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190663397	chr1:77941065-77941066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371592117	chr1:77941068-77941069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201819254	chr1:77941083-77941084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556813779	chr1:77941084-77941085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572889560	chr1:77941086-77941087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs5775404	chr1:77941092-77941093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs5775405	chr1:77941103-77941104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs5775406	chr1:77941110-77941111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376774266	chr1:77941119-77941120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183160650	chr1:77941121-77941122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375880649	chr1:77941142-77941143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370374715	chr1:77941149-77941150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10672519	chr1:77941150-77941151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs36024544	chr1:77941151-77941152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372494913	chr1:77941159-77941160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377048543	chr1:77941160-77941161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567994144	chr1:77941167-77941168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535417081	chr1:77941168-77941169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:77914600-77955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77933600-77944400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:77934200-77948800	Weak transcription	Right Atrium	heart
5	chr1:77934600-77955200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:77935600-77955800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:77935800-77940600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:77935800-77941400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:77935800-77954800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:77937000-77940600	Strong transcription	Primary T cells from cord blood	blood
11	chr1:77938200-77948800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:77938400-77940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:77939000-77940800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:77939200-77945400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:77939600-77940600	Enhancers	Brain Hippocampus Middle	brain
16	chr1:77939600-77940600	Enhancers	Fetal Stomach	stomach
17	chr1:77940200-77941400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:77940200-77941400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:77940200-77943600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:77940200-77955800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:77940400-77941400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:77940400-77941400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:77940400-77941400	Weak transcription	Osteobl	bone
24	chr1:77940400-77943400	Weak transcription	NHDF-Ad	bronchial
25	chr1:77940400-77945400	Weak transcription	HSMM	muscle
26	chr1:77940400-77946400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:77940400-77946800	Weak transcription	Brain Substantia Nigra	brain
28	chr1:77940400-77954800	Weak transcription	Brain Angular Gyrus	brain
29	chr1:77940400-77955400	Weak transcription	NHLF	lung
30	chr1:77940600-77944000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:77940600-77944400	Weak transcription	Primary T cells from cord blood	blood
32	chr1:77940600-77954800	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:77940600-77955600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:77940600-77960800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:77940800-77955400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:77941400-77941600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:77941400-77942000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:77941400-77942000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:77941400-77942000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr1:77941400-77942000	Enhancers	Osteobl	bone
41	chr1:77941400-77942200	Enhancers	Fetal Intestine Small	intestine
42	chr1:77941400-77942600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr1:77941400-77943600	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links