Variant report

Variant	nsv431080
Chromosome Location	chr2:55988293-56011517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:56001464..56004424-chr2:56185372..56187665,3	MCF-7	breast:
2	chr2:56006332..56008999-chr2:56065171..56067853,3	MCF-7	breast:
3	chr2:55998494..55999415-chr2:56188226..56189063,2	MCF-7	breast:
4	chr2:55998660..55999310-chr2:56188089..56189086,3	K562	blood:
5	chr2:56004031..56006518-chr2:56068498..56070427,2	MCF-7	breast:
6	chr2:55942470..55944889-chr2:56004945..56007451,2	MCF-7	breast:
7	chr2:55998559..56000178-chr2:56148124..56150854,2	MCF-7	breast:
8	chr2:55998188..55999614-chr2:56188128..56189121,13	MCF-7	breast:
9	chr2:55998478..55999313-chr2:56236137..56237588,8	MCF-7	breast:
10	chr2:55994825..55997779-chr2:55998633..56001283,3	MCF-7	breast:
11	chr2:56006149..56008907-chr2:56021297..56024096,2	MCF-7	breast:
12	chr2:56001266..56003966-chr2:56005988..56008584,2	K562	blood:
13	chr2:56008821..56010807-chr2:56013593..56015981,2	MCF-7	breast:
14	chr2:56005948..56008265-chr2:56009209..56011349,2	MCF-7	breast:
15	chr2:55994825..55997779-chr2:55998633..56001283,3	MCF-7	breast:
16	chr2:56005948..56008265-chr2:56009209..56011349,2	MCF-7	breast:
17	chr2:56001266..56003966-chr2:56005988..56008584,2	K562	blood:
18	chr2:55993449..55995609-chr2:56244406..56246687,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115380	chromatin interactions

Extended variants
information (count: 953 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:953 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4233963	chr2:55988293-55988294	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531116697	chr2:55988296-55988297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551204128	chr2:55988304-55988305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570827441	chr2:55988315-55988316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148211771	chr2:55988333-55988334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140182634	chr2:55988402-55988403	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74381247	chr2:55988409-55988410	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566448878	chr2:55988429-55988430	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150304952	chr2:55988479-55988480	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373931502	chr2:55988489-55988490	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13390773	chr2:55988492-55988493	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575191775	chr2:55988537-55988538	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185186679	chr2:55988543-55988544	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113837478	chr2:55988561-55988562	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557535195	chr2:55988571-55988572	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576890870	chr2:55988639-55988640	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs11694759	chr2:55988681-55988682	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559616977	chr2:55988760-55988761	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs373968443	chr2:55988840-55988841	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528480699	chr2:55988842-55988843	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76518163	chr2:55988849-55988850	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10496054	chr2:55988870-55988871	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143773168	chr2:55988889-55988890	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77033730	chr2:55988891-55988892	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571072801	chr2:55988903-55988904	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11887339	chr2:55988948-55988949	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536622541	chr2:55988959-55988960	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369748537	chr2:55988983-55988984	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566493063	chr2:55988996-55988997	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535423410	chr2:55988997-55988998	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554954543	chr2:55989027-55989028	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191180197	chr2:55989043-55989044	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147208367	chr2:55989074-55989075	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557663234	chr2:55989083-55989084	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557032922	chr2:55989105-55989106	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564400680	chr2:55989153-55989154	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201123858	chr2:55989181-55989182	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138028080	chr2:55989189-55989190	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372232974	chr2:55989201-55989202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577742352	chr2:55989225-55989226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540097887	chr2:55989289-55989290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576487587	chr2:55989295-55989296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539645294	chr2:55989319-55989320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148280204	chr2:55989330-55989331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369489625	chr2:55989345-55989346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573092888	chr2:55989454-55989455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72814246	chr2:55989474-55989475	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs17039594	chr2:55989482-55989483	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149288571	chr2:55989492-55989493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562085205	chr2:55989520-55989521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55985400-55991200	Enhancers	HMEC	breast
2	chr2:55986200-55989600	Enhancers	NHEK	skin
3	chr2:55986400-55989600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:55986600-55988600	Weak transcription	Aorta	Aorta
5	chr2:55986600-55990000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:55986800-55988800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:55987400-55991400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:55987800-55988400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:55987800-55988600	Enhancers	HSMMtube	muscle
10	chr2:55987800-55989400	Enhancers	Adipose Nuclei	Adipose
11	chr2:55987800-55990200	Enhancers	HSMM	muscle
12	chr2:55988000-55988800	Enhancers	HUVEC	blood vessel
13	chr2:55988000-55989600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:55988200-55988400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:55988200-55989600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:55988200-55990000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:55988400-55988600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:55988400-55988800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:55988400-55989200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:55988600-55988800	Enhancers	Aorta	Aorta
21	chr2:55988600-55989000	Flanking Active TSS	HSMMtube	muscle
22	chr2:55988600-55989400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:55988600-55989400	Enhancers	Osteobl	bone
24	chr2:55988600-55989600	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:55988600-55991400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:55988800-55989200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr2:55988800-55989200	Weak transcription	Aorta	Aorta
28	chr2:55988800-55989400	Enhancers	Ovary	ovary
29	chr2:55988800-55993000	Weak transcription	HUVEC	blood vessel
30	chr2:55989000-55989600	Enhancers	HSMMtube	muscle
31	chr2:55989200-55989400	Enhancers	Aorta	Aorta
32	chr2:55989200-55989800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:55989200-55990000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:55989200-55990000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:55989400-55997800	Weak transcription	Ovary	ovary
36	chr2:55989400-56015000	Weak transcription	Aorta	Aorta
37	chr2:55990000-55993800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:55990000-55996000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:55990000-55998400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:55991400-55996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:55992600-55993200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:55993000-55994200	Enhancers	HUVEC	blood vessel
43	chr2:55993800-55995000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:55994200-55998200	Weak transcription	HUVEC	blood vessel
45	chr2:55995000-55995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:55995600-55997400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:55995800-55997000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:55996000-55997000	Enhancers	HMEC	breast
49	chr2:55996000-55997000	Enhancers	NHEK	skin
50	chr2:55996000-55997200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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