Variant report

Variant	esv3401100
Chromosome Location	chr1:97955064-97957112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:97951367..97953708-chr1:97954168..97957198,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190962472	chr1:97955097-97955098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1415682	chr1:97955133-97955134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181960709	chr1:97955232-97955233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551610858	chr1:97955237-97955238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76838278	chr1:97955247-97955248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs952501	chr1:97955273-97955274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111594082	chr1:97955299-97955300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553612680	chr1:97955369-97955370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111522933	chr1:97955376-97955377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539415565	chr1:97955437-97955438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542816093	chr1:97955465-97955466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374766486	chr1:97955525-97955526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367723390	chr1:97955556-97955557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191383265	chr1:97955576-97955577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369790999	chr1:97955636-97955637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575582679	chr1:97955667-97955668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76956705	chr1:97955668-97955669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183305957	chr1:97955704-97955705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10875093	chr1:97955719-97955720	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186971637	chr1:97955733-97955734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372195146	chr1:97955736-97955737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541599182	chr1:97955746-97955747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144409110	chr1:97955794-97955795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11165884	chr1:97955825-97955826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs146595980	chr1:97955846-97955847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563682392	chr1:97955869-97955870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532502369	chr1:97955920-97955921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575155055	chr1:97955922-97955923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140925729	chr1:97955924-97955925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543775724	chr1:97955930-97955931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369468751	chr1:97955933-97955934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571494923	chr1:97955935-97955936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189896278	chr1:97955971-97955972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115216079	chr1:97956008-97956009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144700325	chr1:97956026-97956027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144318116	chr1:97956036-97956037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs36118685	chr1:97956037-97956038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs68118342	chr1:97956038-97956039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71071657	chr1:97956039-97956040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182122339	chr1:97956048-97956049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555809427	chr1:97956053-97956054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572239552	chr1:97956069-97956070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59990350	chr1:97956175-97956176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11543286	chr1:97956224-97956225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569574895	chr1:97956366-97956367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs33972983	chr1:97956383-97956384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538608808	chr1:97956395-97956396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555621396	chr1:97956432-97956433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559023685	chr1:97956459-97956460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4364915	chr1:97956480-97956481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97872600-98014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:97898800-97960000	Weak transcription	Left Ventricle	heart
3	chr1:97928600-98018200	Weak transcription	Ovary	ovary
4	chr1:97930400-97955400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:97930600-97979200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:97934400-97955600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:97939600-97955400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:97945200-97974200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:97945200-97976000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:97945400-97969600	Weak transcription	Primary T cells from cord blood	blood
11	chr1:97945600-97967000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:97949400-97966200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:97952200-97955200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:97953200-97965400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:97953400-97957600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:97953800-97955800	Enhancers	HMEC	breast
17	chr1:97954000-97955800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:97954000-97955800	Enhancers	NHEK	skin
19	chr1:97954400-97955400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:97954400-97963600	Weak transcription	Psoas Muscle	Psoas
21	chr1:97955000-97955800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:97955000-97955800	Enhancers	A549	lung
23	chr1:97955000-97955800	Enhancers	HepG2	liver
24	chr1:97955000-97956400	Enhancers	HUVEC	blood vessel
25	chr1:97955200-97955800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:97955400-97955800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:97955400-97955800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:97955400-97955800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:97955400-97955800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:97955600-97955800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:97955600-97955800	Enhancers	NHDF-Ad	bronchial
32	chr1:97955600-97956400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:97955800-97956000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:97955800-97966400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:97955800-97966400	Weak transcription	NHDF-Ad	bronchial
36	chr1:97955800-97990000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:97956400-98009400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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