Variant report

Variant	esv3322166
Chromosome Location	chr1:93312014-93313112
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	chr1:93303345..93305385-chr1:93311213..93313203,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251795	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 100 )

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	rs552370109	chr1:93312017-93312018	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12746956	chr1:93312142-93312143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs200610101	chr1:93312192-93312193	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs74622328	chr1:93312203-93312204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141153466	chr1:93312204-93312205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528657270	chr1:93312235-93312236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12092596	chr1:93312242-93312243	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546929525	chr1:93312263-93312264	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568619278	chr1:93312270-93312271	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535843511	chr1:93312277-93312278	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6697543	chr1:93312295-93312296	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562601282	chr1:93312296-93312297	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374047224	chr1:93312314-93312315	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74197963	chr1:93312351-93312352	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370192302	chr1:93312352-93312353	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368796339	chr1:93312373-93312374	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371497444	chr1:93312375-93312376	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375914745	chr1:93312376-93312377	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531599758	chr1:93312378-93312379	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12088085	chr1:93312380-93312381	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367592847	chr1:93312389-93312390	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs28631555	chr1:93312390-93312391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372090138	chr1:93312391-93312392	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs28617500	chr1:93312400-93312401	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376722207	chr1:93312404-93312405	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs55912805	chr1:93312414-93312415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370394633	chr1:93312415-93312416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12092679	chr1:93312416-93312417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369743811	chr1:93312425-93312426	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372385854	chr1:93312427-93312428	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375936196	chr1:93312429-93312430	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374074815	chr1:93312430-93312431	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12089096	chr1:93312437-93312438	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs61435685	chr1:93312439-93312440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370080514	chr1:93312440-93312441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs66528256	chr1:93312444-93312445	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78260116	chr1:93312445-93312446	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs75399671	chr1:93312447-93312448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs76602865	chr1:93312449-93312450	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370152168	chr1:93312463-93312464	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373330041	chr1:93312468-93312469	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376928899	chr1:93312469-93312470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539971627	chr1:93312472-93312473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375711069	chr1:93312479-93312480	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs36139888	chr1:93312485-93312486	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140638087	chr1:93312501-93312502	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs36161139	chr1:93312576-93312577	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12062315	chr1:93312592-93312593	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs540422261	chr1:93312593-93312594	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562412930	chr1:93312663-93312664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93300400-93316000	Strong transcription	Primary B cells from cord blood	blood
2	chr1:93301000-93318400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr1:93303000-93317200	Weak transcription	Right Ventricle	heart
4	chr1:93304200-93312200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:93304400-93349000	Weak transcription	Aorta	Aorta
6	chr1:93305200-93317200	Weak transcription	Fetal Heart	heart
7	chr1:93305800-93316200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:93306000-93316800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:93306000-93317200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:93306400-93312200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr1:93306400-93313800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:93306400-93317200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:93306600-93317400	Weak transcription	Brain Angular Gyrus	brain
14	chr1:93306800-93324800	Weak transcription	Pancreas	Pancrea
15	chr1:93307000-93316600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:93307000-93324800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:93307200-93312200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:93307200-93320000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:93307800-93316800	Weak transcription	Fetal Lung	lung
20	chr1:93308000-93323400	Weak transcription	Small Intestine	intestine
21	chr1:93308000-93324600	Weak transcription	Psoas Muscle	Psoas
22	chr1:93308400-93313400	Weak transcription	Stomach Mucosa	stomach
23	chr1:93309200-93317400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:93309400-93324800	Weak transcription	NHDF-Ad	bronchial
25	chr1:93309600-93314000	Weak transcription	Hela-S3	cervix
26	chr1:93309600-93324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:93309800-93312400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:93309800-93313400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:93309800-93313400	Weak transcription	Colonic Mucosa	Colon
30	chr1:93309800-93313400	Weak transcription	Esophagus	oesophagus
31	chr1:93309800-93313400	Weak transcription	NHEK	skin
32	chr1:93309800-93314800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:93309800-93315000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:93309800-93315000	Weak transcription	Thymus	Thymus
35	chr1:93309800-93315400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:93309800-93317200	Weak transcription	K562	blood
37	chr1:93309800-93317400	Weak transcription	Ovary	ovary
38	chr1:93309800-93317400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:93309800-93317600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:93309800-93318200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:93309800-93320000	Weak transcription	Spleen	Spleen
42	chr1:93309800-93324200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:93309800-93324400	Weak transcription	A549	lung
44	chr1:93309800-93324400	Weak transcription	Osteobl	bone
45	chr1:93309800-93342400	Weak transcription	NHLF	lung
46	chr1:93310000-93312200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:93310000-93312200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:93310000-93312400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:93310000-93313200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:93310000-93313400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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