Variant report

Variant	nsv582013
Chromosome Location	chr2:54559793-54567329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54341443..54343043-chr2:54557751..54559883,2	MCF-7	breast:
2	chr2:54555822..54558489-chr2:54561441..54564836,3	MCF-7	breast:
3	chr2:54560405..54562674-chr2:54570057..54572627,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170634	chromatin interactions
ENSG00000177994	chromatin interactions

Extended variants
information (count: 226 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs843669	chr2:54559793-54559794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560494880	chr2:54559837-54559838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375136877	chr2:54559844-54559845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs193281385	chr2:54560022-54560023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528361839	chr2:54560055-54560056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183184108	chr2:54560097-54560098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112680633	chr2:54560146-54560147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149414408	chr2:54560204-54560205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530613437	chr2:54560210-54560211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113376501	chr2:54560211-54560212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570169830	chr2:54560221-54560222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532877533	chr2:54560232-54560233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560491016	chr2:54560251-54560252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546160178	chr2:54560267-54560268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187435289	chr2:54560307-54560308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535468046	chr2:54560320-54560321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536176265	chr2:54560322-54560323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547991691	chr2:54560366-54560367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71413265	chr2:54560394-54560395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28698214	chr2:54560428-54560429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184018570	chr2:54560479-54560480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558394646	chr2:54560519-54560520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190002094	chr2:54560520-54560521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561356454	chr2:54560557-54560558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554272340	chr2:54560588-54560589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573938403	chr2:54560637-54560638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543052713	chr2:54560661-54560662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561785136	chr2:54560738-54560739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192694918	chr2:54560744-54560745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556588428	chr2:54560745-54560746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569987903	chr2:54560746-54560747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139839702	chr2:54560834-54560835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543966724	chr2:54560847-54560848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563959675	chr2:54560872-54560873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532987600	chr2:54560900-54560901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546273629	chr2:54560911-54560912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141657706	chr2:54560978-54560979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377506801	chr2:54560988-54560989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72802687	chr2:54561027-54561028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148410969	chr2:54561041-54561042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72917496	chr2:54561063-54561064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs72917498	chr2:54561084-54561085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184590612	chr2:54561108-54561109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114772306	chr2:54561109-54561110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115721896	chr2:54561110-54561111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369858865	chr2:54561118-54561119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574080679	chr2:54561160-54561161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536209323	chr2:54561225-54561226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556535492	chr2:54561236-54561237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142690683	chr2:54561262-54561263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54558600-54562200	Weak transcription	HSMM	muscle
2	chr2:54558600-54562200	Weak transcription	HSMMtube	muscle
3	chr2:54558600-54562600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:54558600-54562800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:54558600-54563000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:54558600-54563400	Weak transcription	Aorta	Aorta
7	chr2:54558600-54563400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:54558800-54559800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:54558800-54562000	Weak transcription	Fetal Heart	heart
10	chr2:54558800-54562200	Weak transcription	NHLF	lung
11	chr2:54558800-54562600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:54558800-54562800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:54558800-54562800	Weak transcription	Right Atrium	heart
14	chr2:54558800-54562800	Weak transcription	Osteobl	bone
15	chr2:54558800-54563000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:54558800-54563200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:54558800-54563200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:54558800-54563400	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:54558800-54563800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:54558800-54563800	Weak transcription	Adipose Nuclei	Adipose
21	chr2:54558800-54563800	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:54558800-54563800	Weak transcription	Lung	lung
23	chr2:54558800-54574800	Weak transcription	Left Ventricle	heart
24	chr2:54559000-54563400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:54559000-54563400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:54559000-54563400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:54559000-54568400	Weak transcription	Right Ventricle	heart
28	chr2:54559200-54563600	Weak transcription	Brain Anterior Caudate	brain
29	chr2:54559400-54560600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:54559400-54562400	Weak transcription	NHDF-Ad	bronchial
31	chr2:54559800-54562600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:54560600-54562000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:54562000-54564800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:54562000-54565400	Enhancers	Fetal Heart	heart
35	chr2:54562200-54563800	Enhancers	HSMMtube	muscle
36	chr2:54562200-54563800	Enhancers	NHLF	lung
37	chr2:54562200-54565000	Enhancers	HSMM	muscle
38	chr2:54562400-54565000	Enhancers	NHDF-Ad	bronchial
39	chr2:54562600-54563600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:54562600-54564600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:54562600-54565400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:54562800-54563000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:54562800-54563200	Enhancers	Right Atrium	heart
44	chr2:54562800-54563800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:54562800-54564400	Enhancers	NH-A	brain
46	chr2:54562800-54565200	Enhancers	Osteobl	bone
47	chr2:54562800-54565400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:54563000-54563200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:54563000-54563800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:54563000-54564800	Enhancers	Muscle Satellite Cultured Cells	--

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