Variant report

Variant	esv1005153
Chromosome Location	chr1:94281705-94283362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94145260..94147356-chr1:94280674..94282798,2	MCF-7	breast:
2	chr1:94280000..94282465-chr1:94282888..94285001,2	K562	blood:
3	chr1:94280000..94282465-chr1:94282888..94285001,2	K562	blood:

Variant related genes	Relation type
ENSG00000137936	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139077178	chr1:94281720-94281721	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538149774	chr1:94281731-94281732	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149885666	chr1:94281744-94281745	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544386790	chr1:94281786-94281787	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562581241	chr1:94281836-94281837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558066723	chr1:94281943-94281944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200444404	chr1:94281947-94281948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535446591	chr1:94281949-94281950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548988274	chr1:94281955-94281956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375367848	chr1:94282010-94282011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560158874	chr1:94282026-94282027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182057140	chr1:94282031-94282032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547023035	chr1:94282043-94282044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540094728	chr1:94282062-94282063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145056433	chr1:94282100-94282101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565992651	chr1:94282206-94282207	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs60051218	chr1:94282227-94282228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77092026	chr1:94282244-94282245	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12730395	chr1:94282246-94282247	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs397980848	chr1:94282251-94282252	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200023768	chr1:94282252-94282253	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs17304770	chr1:94282287-94282288	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs569031207	chr1:94282310-94282311	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112724360	chr1:94282345-94282346	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149114315	chr1:94282347-94282348	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186048204	chr1:94282396-94282397	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542758854	chr1:94282398-94282399	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556080347	chr1:94282454-94282455	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192156663	chr1:94282522-94282523	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555417053	chr1:94282530-94282531	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35374884	chr1:94282535-94282536	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs78997364	chr1:94282544-94282545	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77531094	chr1:94282545-94282546	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573839563	chr1:94282588-94282589	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576226732	chr1:94282609-94282610	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183813787	chr1:94282701-94282702	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs35040950	chr1:94282720-94282721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573831254	chr1:94282755-94282756	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537648509	chr1:94282800-94282801	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs115431702	chr1:94282842-94282843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs577831172	chr1:94282877-94282878	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs114119945	chr1:94282884-94282885	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs565203816	chr1:94282900-94282901	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189180417	chr1:94282939-94282940	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs60278482	chr1:94282949-94282950	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs183167300	chr1:94282956-94282957	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs542567830	chr1:94283074-94283075	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs562244179	chr1:94283078-94283079	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs2818167	chr1:94283079-94283080	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs6692717	chr1:94283093-94283094	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94273600-94282800	Weak transcription	Lung	lung
2	chr1:94275800-94282400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:94275800-94284200	Enhancers	Hela-S3	cervix
4	chr1:94275800-94285000	Enhancers	HMEC	breast
5	chr1:94276000-94283600	Enhancers	HSMM	muscle
6	chr1:94276000-94285200	Enhancers	Placenta	Placenta
7	chr1:94276800-94283800	Enhancers	NHEK	skin
8	chr1:94277000-94282400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:94277000-94284400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:94277000-94285000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:94277200-94282600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:94277600-94284600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:94277800-94282600	Weak transcription	Fetal Stomach	stomach
14	chr1:94278200-94282600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:94278200-94282800	Weak transcription	Right Ventricle	heart
16	chr1:94278600-94281800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:94278600-94283200	Enhancers	Osteobl	bone
18	chr1:94278600-94284000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:94278800-94282000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:94278800-94282600	Weak transcription	Left Ventricle	heart
21	chr1:94279200-94281800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:94279400-94281800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:94279400-94282400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:94279400-94282800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:94279400-94284400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:94279600-94282400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:94279600-94282400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:94279600-94282400	Weak transcription	Fetal Intestine Small	intestine
29	chr1:94279600-94282400	Weak transcription	NHDF-Ad	bronchial
30	chr1:94279600-94282600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:94279600-94302800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:94279800-94282400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:94279800-94282400	Weak transcription	HepG2	liver
34	chr1:94279800-94282600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:94279800-94282600	Weak transcription	NHLF	lung
36	chr1:94279800-94284400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:94279800-94284600	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:94280000-94282200	Weak transcription	Adipose Nuclei	Adipose
39	chr1:94280000-94282400	Weak transcription	Liver	Liver
40	chr1:94280000-94282400	Weak transcription	Fetal Thymus	thymus
41	chr1:94280000-94282600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:94280000-94282800	Weak transcription	Fetal Intestine Large	intestine
43	chr1:94280000-94285600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:94280000-94290000	Weak transcription	Brain Angular Gyrus	brain
45	chr1:94280200-94282200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:94280200-94282400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:94280200-94282400	Weak transcription	Right Atrium	heart
48	chr1:94280200-94284000	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:94280400-94282800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:94280400-94285000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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