Variant report

Variant	esv3410042
Chromosome Location	chr1:95435114-95437212
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	chr1:95421294..95422919-chr1:95433531..95435753,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144476255	chr1:95435152-95435153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78023846	chr1:95435161-95435162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78642751	chr1:95435175-95435176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540178238	chr1:95435177-95435178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376914894	chr1:95435188-95435189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559902457	chr1:95435189-95435190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148012699	chr1:95435193-95435194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549431733	chr1:95435255-95435256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141696085	chr1:95435362-95435363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192709001	chr1:95435448-95435449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs884821	chr1:95435457-95435458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546095549	chr1:95435484-95435485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531681396	chr1:95435500-95435501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568190969	chr1:95435508-95435509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551480222	chr1:95435529-95435530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556373662	chr1:95435559-95435560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576207835	chr1:95435583-95435584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72720233	chr1:95435588-95435589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562371957	chr1:95435731-95435732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139144165	chr1:95435795-95435796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534477561	chr1:95435801-95435802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2104509	chr1:95435802-95435803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111558694	chr1:95435831-95435832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536462494	chr1:95435891-95435892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555399908	chr1:95435938-95435939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373071239	chr1:95435970-95435971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529367135	chr1:95435991-95435992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368251453	chr1:95435992-95435993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61003064	chr1:95436011-95436012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7410906	chr1:95436023-95436024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193006707	chr1:95436090-95436091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549386946	chr1:95436119-95436120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377433634	chr1:95436121-95436122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569142808	chr1:95436147-95436148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541125987	chr1:95436149-95436150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116330149	chr1:95436151-95436152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533755499	chr1:95436154-95436155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527301002	chr1:95436179-95436180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537993056	chr1:95436186-95436187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140533866	chr1:95436189-95436190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371994702	chr1:95436190-95436191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557324017	chr1:95436227-95436228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139833731	chr1:95436249-95436250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12071345	chr1:95436293-95436294	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184995907	chr1:95436333-95436334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540976415	chr1:95436344-95436345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573737827	chr1:95436370-95436371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188930681	chr1:95436372-95436373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370487045	chr1:95436381-95436382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562747564	chr1:95436383-95436384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Multiple myeloma	17550852	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
Acute lymphoblastic leukemia	22237106	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

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95422000-95450800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:95428800-95436400	Weak transcription	Lung	lung
3	chr1:95428800-95439200	Weak transcription	Aorta	Aorta
4	chr1:95429000-95436200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:95429000-95436200	Weak transcription	HSMM	muscle
6	chr1:95429000-95436400	Weak transcription	Fetal Kidney	kidney
7	chr1:95429000-95436400	Weak transcription	HSMMtube	muscle
8	chr1:95429000-95437600	Weak transcription	Right Ventricle	heart
9	chr1:95429000-95439800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:95429000-95467600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:95429200-95436400	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:95429200-95440200	Weak transcription	Fetal Intestine Small	intestine
13	chr1:95429600-95437600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:95429800-95436200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:95429800-95436400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:95429800-95436400	Weak transcription	Right Atrium	heart
17	chr1:95432000-95436200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:95433400-95436200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:95433600-95436200	Weak transcription	HUVEC	blood vessel
20	chr1:95434400-95436200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:95435000-95435400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:95435000-95436400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:95435400-95436400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:95435800-95438000	Enhancers	Placenta	Placenta
25	chr1:95436200-95436600	Enhancers	HUVEC	blood vessel
26	chr1:95436200-95436800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:95436200-95436800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:95436200-95437000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:95436200-95437200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:95436200-95437400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:95436200-95437600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:95436200-95437600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:95436200-95438200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:95436200-95438200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:95436200-95438200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:95436200-95438200	Enhancers	HMEC	breast
37	chr1:95436200-95438200	Enhancers	NHLF	lung
38	chr1:95436200-95438200	Enhancers	Osteobl	bone
39	chr1:95436200-95440000	Enhancers	NHDF-Ad	bronchial
40	chr1:95436200-95441200	Enhancers	HSMM	muscle
41	chr1:95436400-95436600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:95436400-95436600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:95436400-95436600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr1:95436400-95436600	Enhancers	Right Atrium	heart
45	chr1:95436400-95436600	Enhancers	Small Intestine	intestine
46	chr1:95436400-95436600	Enhancers	HSMMtube	muscle
47	chr1:95436400-95436800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:95436400-95436800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:95436400-95436800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr1:95436400-95437000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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