Variant report

Variant	esv2762158
Chromosome Location	chr1:78734241-78747540
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: 497 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140435410	chr1:78734611-78734612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144799076	chr1:78734617-78734618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1328446	chr1:78734660-78734661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11162443	chr1:78734662-78734663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189071353	chr1:78734674-78734675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369043592	chr1:78734676-78734677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540413361	chr1:78734678-78734679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542174683	chr1:78734688-78734689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560273184	chr1:78734708-78734709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140177748	chr1:78734726-78734727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113366646	chr1:78734732-78734733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11801710	chr1:78734759-78734760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561824758	chr1:78734823-78734824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530397527	chr1:78734834-78734835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11802024	chr1:78734867-78734868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370786902	chr1:78734881-78734882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531900600	chr1:78734885-78734886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549906405	chr1:78734918-78734919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150063651	chr1:78734957-78734958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528981098	chr1:78735005-78735006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547396153	chr1:78735019-78735020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570150604	chr1:78735026-78735027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11803225	chr1:78735045-78735046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192752024	chr1:78735062-78735063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375257140	chr1:78735090-78735091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78711741	chr1:78735094-78735095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183925408	chr1:78735152-78735153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115563797	chr1:78735154-78735155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35099282	chr1:78735163-78735164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568251963	chr1:78735220-78735221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535558547	chr1:78735242-78735243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12566056	chr1:78735247-78735248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs188599107	chr1:78735272-78735273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546918194	chr1:78735299-78735300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558446808	chr1:78735343-78735344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372735681	chr1:78735354-78735355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374602047	chr1:78735368-78735369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566537913	chr1:78735386-78735387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149143125	chr1:78735399-78735400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116523630	chr1:78735421-78735422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567545466	chr1:78735432-78735433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151005118	chr1:78735498-78735499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529029962	chr1:78735502-78735503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540758023	chr1:78735562-78735563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544885250	chr1:78735575-78735576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143621398	chr1:78735576-78735577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71987171	chr1:78735587-78735588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559307490	chr1:78735595-78735596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3057170	chr1:78735596-78735597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532743971	chr1:78735600-78735601	Weak transcription	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78734600-78735000	Enhancers	HMEC	breast
2	chr1:78734800-78749400	Weak transcription	Liver	Liver
3	chr1:78735000-78740400	Weak transcription	HMEC	breast
4	chr1:78736400-78737400	Enhancers	NHDF-Ad	bronchial
5	chr1:78736800-78737200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:78736800-78737400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:78737200-78740600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:78737400-78740400	Weak transcription	NHDF-Ad	bronchial
9	chr1:78737400-78740800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:78739800-78743200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:78740000-78740200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:78740000-78740200	Enhancers	NHLF	lung
13	chr1:78740000-78747000	Enhancers	Osteobl	bone
14	chr1:78740200-78740600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr1:78740200-78740800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:78740200-78741000	Weak transcription	NHLF	lung
17	chr1:78740200-78742800	Enhancers	HSMM	muscle
18	chr1:78740200-78743200	Enhancers	HSMMtube	muscle
19	chr1:78740200-78745200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:78740400-78740600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:78740400-78740600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:78740400-78741000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:78740400-78743200	Enhancers	Fetal Muscle Leg	muscle
24	chr1:78740400-78745600	Enhancers	NH-A	brain
25	chr1:78740400-78746800	Enhancers	HMEC	breast
26	chr1:78740400-78747000	Enhancers	NHDF-Ad	bronchial
27	chr1:78740600-78740800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:78740600-78741000	Enhancers	Colon Smooth Muscle	Colon
29	chr1:78740600-78741000	Enhancers	Stomach Smooth Muscle	stomach
30	chr1:78740600-78741200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:78740600-78741800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:78740800-78741000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:78740800-78741800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:78740800-78742800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:78741000-78741400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:78741000-78746800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:78741000-78747000	Enhancers	NHLF	lung
38	chr1:78741200-78741600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:78741400-78741600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:78741400-78741600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:78741400-78742200	Bivalent Enhancer	HUVEC	blood vessel
42	chr1:78741400-78746400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:78741600-78741800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:78741600-78742600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:78741800-78742600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:78741800-78742800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:78741800-78746400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:78742600-78742800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:78742600-78743400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:78742600-78743400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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