Variant report

Variant	nsv518718
Chromosome Location	chr2:48624007-48650308
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48337553..48343006-chr2:48644200..48649231,9	MCF-7	breast:
2	chr2:48342001..48342697-chr2:48647600..48648543,2	K562	blood:
3	chr2:48420748..48422643-chr2:48628237..48631229,2	K562	blood:
4	chr2:48649795..48653171-chr2:48665814..48667830,3	K562	blood:
5	chr2:48633890..48635428-chr2:48640629..48643120,2	K562	blood:
6	chr2:48338306..48339005-chr2:48647700..48648301,2	MCF-7	breast:
7	chr2:48337541..48339290-chr2:48647557..48648526,13	MCF-7	breast:
8	chr2:48540164..48542701-chr2:48646519..48648183,2	MCF-7	breast:
9	chr2:48337971..48339938-chr2:48647597..48648547,19	K562	blood:
10	chr2:48649540..48651703-chr2:48667084..48669876,2	MCF-7	breast:
11	chr2:48636349..48637908-chr2:48646875..48649366,2	MCF-7	breast:
12	chr2:48633890..48635428-chr2:48640629..48643120,2	K562	blood:
13	chr2:48336673..48339163-chr2:48642028..48644836,2	K562	blood:
14	chr2:48636349..48637908-chr2:48646875..48649366,2	MCF-7	breast:
15	chr2:48540493..48542753-chr2:48643021..48644548,2	K562	blood:
16	chr2:48649466..48652347-chr2:48667979..48669728,2	K562	blood:
17	chr2:48541072..48542749-chr2:48647809..48650233,2	K562	blood:
18	chr2:48540490..48542978-chr2:48647661..48649462,2	MCF-7	breast:
19	chr2:48641901..48644739-chr2:48646186..48647771,2	K562	blood:
20	chr2:48336922..48340984-chr2:48645140..48651052,10	MCF-7	breast:
21	chr2:48333414..48334265-chr2:48647971..48648489,2	K562	blood:
22	chr2:48645150..48646743-chr2:48650153..48652145,2	MCF-7	breast:
23	chr2:48337985..48339413-chr2:48647520..48648569,36	MCF-7	breast:
24	chr2:48648611..48650964-chr2:48651861..48653662,2	MCF-7	breast:
25	chr2:48641901..48644739-chr2:48646186..48647771,2	K562	blood:
26	chr2:48620898..48623309-chr2:48624782..48626327,2	K562	blood:
27	chr2:48130775..48133582-chr2:48622856..48624453,2	MCF-7	breast:
28	chr2:48647192..48649423-chr2:48652404..48655156,2	MCF-7	breast:
29	chr2:48617829..48620871-chr2:48622412..48626412,3	K562	blood:
30	chr2:48645150..48646743-chr2:48650153..48652145,2	MCF-7	breast:
31	chr2:48647311..48649443-chr2:48666220..48667845,2	MCF-7	breast:
32	chr2:48357074..48359129-chr2:48646502..48648468,2	MCF-7	breast:
33	chr2:48643733..48645696-chr2:48650632..48652708,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162869	chromatin interactions
ENSG00000272663	chromatin interactions
ENSG00000170802	chromatin interactions
ENSG00000138081	chromatin interactions
ENSG00000233230	chromatin interactions

Extended variants
information (count: 1109 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1109 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4953572	chr2:48624007-48624008	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544295491	chr2:48624044-48624045	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556490952	chr2:48624052-48624053	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577717087	chr2:48624058-48624059	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183557678	chr2:48624067-48624068	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs560201136	chr2:48624096-48624097	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537718901	chr2:48624108-48624109	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528320238	chr2:48624122-48624123	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs188440155	chr2:48624189-48624190	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561870125	chr2:48624205-48624206	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs553745826	chr2:48624292-48624293	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550328668	chr2:48624300-48624301	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs568825583	chr2:48624302-48624303	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369645003	chr2:48624310-48624311	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs146666032	chr2:48624326-48624327	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572842694	chr2:48624346-48624347	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs193190005	chr2:48624359-48624360	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs28581888	chr2:48624433-48624434	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs34309117	chr2:48624445-48624446	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534162547	chr2:48624458-48624459	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs147680019	chr2:48624513-48624514	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs555893068	chr2:48624572-48624573	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185476313	chr2:48624620-48624621	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs572106908	chr2:48624640-48624641	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs538482216	chr2:48624706-48624707	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34477592	chr2:48624788-48624789	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556146155	chr2:48624791-48624792	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs147911385	chr2:48624873-48624874	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577653315	chr2:48624893-48624894	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544996104	chr2:48624917-48624918	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188084960	chr2:48624921-48624922	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553879957	chr2:48624942-48624943	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375582405	chr2:48624948-48624949	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542724722	chr2:48625007-48625008	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs540073052	chr2:48625030-48625031	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs10169629	chr2:48625044-48625045	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs115939191	chr2:48625079-48625080	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs562762721	chr2:48625088-48625089	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191400332	chr2:48625089-48625090	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551650360	chr2:48625109-48625110	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs35428248	chr2:48625138-48625139	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs551379858	chr2:48625186-48625187	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566587032	chr2:48625217-48625218	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs529055629	chr2:48625223-48625224	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs112034204	chr2:48625241-48625242	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs368854183	chr2:48625251-48625252	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs183839076	chr2:48625271-48625272	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs550104762	chr2:48625284-48625285	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs571588962	chr2:48625295-48625296	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs36037595	chr2:48625320-48625321	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Bladder cancer	21909424	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
small cell lung cancer	20016488	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
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	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
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:813 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48619200-48624600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:48619400-48624600	Weak transcription	Brain Angular Gyrus	brain
3	chr2:48619400-48624600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:48619400-48624600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:48619400-48625400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:48619600-48624400	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:48622800-48624200	Enhancers	Primary T cells from cord blood	blood
8	chr2:48623200-48624600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:48623200-48625600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:48623400-48624800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:48623600-48624800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:48623600-48625400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:48623600-48626800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:48623600-48626800	Weak transcription	Fetal Intestine Large	intestine
15	chr2:48623600-48626800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:48623800-48624600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:48623800-48626600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:48624000-48624200	Enhancers	Fetal Brain Male	brain
19	chr2:48624000-48624400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:48624000-48624600	Enhancers	Brain Germinal Matrix	brain
21	chr2:48624000-48624600	Enhancers	Fetal Brain Female	brain
22	chr2:48624000-48625000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:48624200-48624600	Flanking Active TSS	Fetal Brain Male	brain
24	chr2:48624200-48625000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:48624400-48624600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:48624400-48624600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:48624400-48624600	Enhancers	Brain Hippocampus Middle	brain
28	chr2:48624400-48626200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:48624400-48626200	Enhancers	Fetal Lung	lung
30	chr2:48624600-48624800	Active TSS	Fetal Brain Female	brain
31	chr2:48624600-48625000	Enhancers	Brain Angular Gyrus	brain
32	chr2:48624600-48625000	Enhancers	Brain Anterior Caudate	brain
33	chr2:48624600-48625000	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:48624600-48625000	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr2:48624600-48625000	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:48624600-48625000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:48624600-48625000	Enhancers	Fetal Brain Male	brain
38	chr2:48624600-48625200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:48624600-48626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:48624600-48626000	Enhancers	Adipose Nuclei	Adipose
41	chr2:48624600-48626000	Enhancers	Fetal Heart	heart
42	chr2:48624600-48627800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:48624800-48625000	Flanking Active TSS	Fetal Brain Female	brain
44	chr2:48624800-48625200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:48624800-48626400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr2:48625000-48625200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:48625000-48625200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr2:48625000-48625200	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr2:48625000-48625200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:48625000-48625400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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