Variant report

Variant	nsv521538
Chromosome Location	chr2:133830379-133852801
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:133826353..133828506-chr2:133839741..133842653,2	MCF-7	breast:
2	chr2:133836968..133839255-chr2:133840150..133841905,2	K562	blood:
3	chr2:133850084..133851752-chr2:133851774..133853791,2	MCF-7	breast:
4	chr2:133836968..133839255-chr2:133840150..133841905,2	K562	blood:
5	chr2:133828442..133830137-chr2:133831672..133833496,2	MCF-7	breast:
6	chr2:133850084..133851752-chr2:133851774..133853791,2	MCF-7	breast:
7	chr2:133850171..133852489-chr2:133854080..133856768,2	MCF-7	breast:
8	chr2:133811077..133813218-chr2:133838444..133841047,2	MCF-7	breast:
9	chr2:133831745..133832436-chr8:97637034..97637925,2	MCF-7	breast:

No data

Extended variants
information (count: 855 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386650740	chr2:133830379-133830380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115208014	chr2:133830380-133830381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62178950	chr2:133830397-133830398	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539046523	chr2:133830398-133830399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202061575	chr2:133830421-133830422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553956011	chr2:133830478-133830479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564917563	chr2:133830491-133830492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576891605	chr2:133830528-133830529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541155756	chr2:133830548-133830549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138243811	chr2:133830577-133830578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529780912	chr2:133830620-133830621	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs78997631	chr2:133830621-133830622	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs548373227	chr2:133830739-133830740	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563291070	chr2:133830765-133830766	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs1437904	chr2:133830790-133830791	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs546683531	chr2:133830799-133830800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs144053451	chr2:133830809-133830810	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542845064	chr2:133830818-133830819	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs552179178	chr2:133830839-133830840	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs571339195	chr2:133830851-133830852	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs143724067	chr2:133830857-133830858	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547356582	chr2:133830897-133830898	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs77674016	chr2:133830898-133830899	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369667970	chr2:133830906-133830907	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532670506	chr2:133830965-133830966	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs565851100	chr2:133830978-133830979	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576229695	chr2:133830991-133830992	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs536304570	chr2:133830992-133830993	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555193368	chr2:133831029-133831030	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs576554117	chr2:133831053-133831054	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537786412	chr2:133831070-133831071	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs371263635	chr2:133831114-133831115	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559272260	chr2:133831122-133831123	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs577585419	chr2:133831169-133831170	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7599102	chr2:133831170-133831171	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192942340	chr2:133831214-133831215	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565249823	chr2:133831239-133831240	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532761284	chr2:133831269-133831270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs184764107	chr2:133831308-133831309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs546319596	chr2:133831339-133831340	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs541556776	chr2:133831340-133831341	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563538972	chr2:133831353-133831354	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs76662716	chr2:133831372-133831373	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568030211	chr2:133831378-133831379	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376171913	chr2:133831383-133831384	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs140815364	chr2:133831385-133831386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564059578	chr2:133831399-133831400	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs528334381	chr2:133831412-133831413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371670987	chr2:133831422-133831423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139569834	chr2:133831438-133831439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133819600-133830800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:133820600-133830800	Weak transcription	Hela-S3	cervix
3	chr2:133826600-133830600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:133830000-133830600	Enhancers	NHEK	skin
5	chr2:133830000-133831400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:133830400-133831600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:133830600-133831200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:133830600-133831400	Flanking Active TSS	NHEK	skin
9	chr2:133830600-133831600	Enhancers	HMEC	breast
10	chr2:133830800-133831200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:133830800-133831200	Enhancers	Brain Angular Gyrus	brain
12	chr2:133830800-133831400	Enhancers	Hela-S3	cervix
13	chr2:133830800-133831600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:133830800-133831600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:133831000-133831800	Enhancers	Brain Hippocampus Middle	brain
16	chr2:133831000-133831800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:133831200-133834000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:133831200-133834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:133831400-133831600	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:133831400-133831600	Enhancers	NHEK	skin
21	chr2:133831400-133835800	Weak transcription	Right Ventricle	heart
22	chr2:133831600-133855200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:133832800-133834200	Weak transcription	Fetal Brain Male	brain
24	chr2:133833400-133834000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:133834000-133834800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:133834000-133837800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:133834200-133834400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:133834200-133834600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:133834200-133835200	Enhancers	Fetal Lung	lung
30	chr2:133834200-133836400	Enhancers	Fetal Brain Male	brain
31	chr2:133834400-133834600	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:133834400-133835000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:133834400-133835000	Enhancers	Ovary	ovary
34	chr2:133834400-133835200	Enhancers	NHLF	lung
35	chr2:133834400-133836400	Enhancers	Fetal Stomach	stomach
36	chr2:133834600-133835000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:133834600-133835400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:133834800-133835400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:133835000-133835200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:133835000-133835400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:133835000-133835400	Active TSS	Brain Cingulate Gyrus	brain
42	chr2:133835000-133835400	Active TSS	Ovary	ovary
43	chr2:133835000-133835600	Enhancers	Fetal Brain Female	brain
44	chr2:133835200-133835400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:133835200-133835400	Flanking Active TSS	Fetal Lung	lung
46	chr2:133835400-133835600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:133835400-133835600	Enhancers	Fetal Lung	lung
48	chr2:133835400-133835800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:133835400-133835800	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:133835400-133836000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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