Variant report

Variant	esv2763564
Chromosome Location	chr1:78727900-78747540
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	chr1:78610308..78611200-chr1:78741448..78742370,2	MCF-7	breast:

Extended variants
information (count: 546 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369615689	chr1:78729004-78729005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529470034	chr1:78729033-78729034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143545261	chr1:78729051-78729052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11801409	chr1:78729065-78729066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532808024	chr1:78729088-78729089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148035469	chr1:78729185-78729186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375074226	chr1:78729212-78729213	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs11801422	chr1:78729213-78729214	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537396001	chr1:78729238-78729239	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs548854017	chr1:78729299-78729300	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs567130881	chr1:78729328-78729329	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs188020101	chr1:78729390-78729391	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs142639666	chr1:78729395-78729396	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs572469450	chr1:78729437-78729438	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs539533866	chr1:78729440-78729441	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs567234368	chr1:78729482-78729483	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs568080332	chr1:78729497-78729498	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs536945379	chr1:78729506-78729507	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs556878558	chr1:78729531-78729532	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs551684476	chr1:78729569-78729570	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs113597663	chr1:78729593-78729594	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs58055158	chr1:78729633-78729634	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs398053146	chr1:78729645-78729646	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201589966	chr1:78729647-78729648	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397862255	chr1:78729648-78729649	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192549901	chr1:78729661-78729662	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541606268	chr1:78729698-78729699	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112892881	chr1:78729701-78729702	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184885502	chr1:78729710-78729711	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570272015	chr1:78729736-78729737	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544771942	chr1:78729763-78729764	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146035768	chr1:78729805-78729806	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12127829	chr1:78729855-78729856	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139991209	chr1:78729856-78729857	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567193830	chr1:78729870-78729871	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528285606	chr1:78729952-78729953	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187275547	chr1:78729979-78729980	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571350802	chr1:78730041-78730042	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573274057	chr1:78730067-78730068	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2226025	chr1:78730079-78730080	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542345276	chr1:78730105-78730106	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192155178	chr1:78730111-78730112	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184455259	chr1:78730217-78730218	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs189234864	chr1:78730222-78730223	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs369602743	chr1:78730256-78730257	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs537415317	chr1:78730304-78730305	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs556112798	chr1:78730355-78730356	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs141507360	chr1:78730365-78730366	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs2351915	chr1:78730394-78730395	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140435410	chr1:78734611-78734612	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78729000-78729400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr1:78729000-78729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:78729000-78729600	Enhancers	Fetal Muscle Leg	muscle
4	chr1:78729200-78729400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:78729200-78729400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:78729200-78729400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:78729200-78729600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:78729200-78729600	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:78729200-78730200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:78729400-78729600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:78729400-78729800	Enhancers	HSMMtube	muscle
12	chr1:78729400-78730000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:78729600-78729800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr1:78729600-78730000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:78730000-78730200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr1:78730200-78730400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr1:78734600-78735000	Enhancers	HMEC	breast
18	chr1:78734800-78749400	Weak transcription	Liver	Liver
19	chr1:78735000-78740400	Weak transcription	HMEC	breast
20	chr1:78736400-78737400	Enhancers	NHDF-Ad	bronchial
21	chr1:78736800-78737200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:78736800-78737400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:78737200-78740600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:78737400-78740400	Weak transcription	NHDF-Ad	bronchial
25	chr1:78737400-78740800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:78739800-78743200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:78740000-78740200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:78740000-78740200	Enhancers	NHLF	lung
29	chr1:78740000-78747000	Enhancers	Osteobl	bone
30	chr1:78740200-78740600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr1:78740200-78740800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:78740200-78741000	Weak transcription	NHLF	lung
33	chr1:78740200-78742800	Enhancers	HSMM	muscle
34	chr1:78740200-78743200	Enhancers	HSMMtube	muscle
35	chr1:78740200-78745200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:78740400-78740600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:78740400-78740600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:78740400-78741000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:78740400-78743200	Enhancers	Fetal Muscle Leg	muscle
40	chr1:78740400-78745600	Enhancers	NH-A	brain
41	chr1:78740400-78746800	Enhancers	HMEC	breast
42	chr1:78740400-78747000	Enhancers	NHDF-Ad	bronchial
43	chr1:78740600-78740800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:78740600-78741000	Enhancers	Colon Smooth Muscle	Colon
45	chr1:78740600-78741000	Enhancers	Stomach Smooth Muscle	stomach
46	chr1:78740600-78741200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:78740600-78741800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:78740800-78741000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:78740800-78741800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:78740800-78742800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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