Variant report

Variant	nsv1014747
Chromosome Location	chr2:190097979-190132854
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190090132..190092755-chr2:190097807..190099636,2	MCF-7	breast:
2	chr2:190086028..190087990-chr2:190129145..190131338,2	MCF-7	breast:
3	chr2:190113277..190115090-chr2:190145550..190148352,2	MCF-7	breast:
4	chr2:190118168..190119811-chr2:190148102..190150928,2	MCF-7	breast:
5	chr2:190127804..190129653-chr2:190131689..190133883,2	MCF-7	breast:
6	chr2:190127804..190129653-chr2:190131689..190133883,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR75-2	chr2:190113493-190113684	l_2007_chr2:190113492-190114976_testes
2	lnc-WDR75-2	chr2:190114616-190114976	l_2007_chr2:190113492-190114976_testes

No data

Extended variants
information (count: 1184 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1184 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574053122	chr2:190098026-190098027	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs541772640	chr2:190098033-190098034	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs557252340	chr2:190098041-190098042	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375390195	chr2:190098155-190098156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575435868	chr2:190098214-190098215	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs554243024	chr2:190098230-190098231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546022391	chr2:190098232-190098233	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182695019	chr2:190098243-190098244	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs75272132	chr2:190098282-190098283	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188109119	chr2:190098300-190098301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs541498080	chr2:190098326-190098327	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559801618	chr2:190098332-190098333	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs191134721	chr2:190098348-190098349	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs183027561	chr2:190098349-190098350	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570361002	chr2:190098407-190098408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187519898	chr2:190098474-190098475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192633261	chr2:190098480-190098481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386653670	chr2:190098550-190098551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373379650	chr2:190098552-190098553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143498522	chr2:190098553-190098554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200231797	chr2:190098565-190098566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552781672	chr2:190098567-190098568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570661720	chr2:190098620-190098621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534418821	chr2:190098647-190098648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117642238	chr2:190098675-190098676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567795267	chr2:190098701-190098702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535470002	chr2:190098805-190098806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556675936	chr2:190098806-190098807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575544287	chr2:190098823-190098824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372941126	chr2:190098849-190098850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74745737	chr2:190098924-190098925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557993940	chr2:190098946-190098947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573041573	chr2:190098961-190098962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116760757	chr2:190098989-190098990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559913790	chr2:190099001-190099002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184571530	chr2:190099055-190099056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140700530	chr2:190099082-190099083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187449919	chr2:190099088-190099089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565132570	chr2:190099167-190099168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531236285	chr2:190099174-190099175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552410754	chr2:190099204-190099205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191883465	chr2:190099269-190099270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528632413	chr2:190099281-190099282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546777949	chr2:190099317-190099318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568190118	chr2:190099335-190099336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146238901	chr2:190099352-190099353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556922034	chr2:190099362-190099363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564103640	chr2:190099399-190099400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539737120	chr2:190099408-190099409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114553935	chr2:190099416-190099417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190087600-190099800	Weak transcription	HSMM	muscle
2	chr2:190096200-190101400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:190096400-190098600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:190096600-190098800	Enhancers	Osteobl	bone
5	chr2:190096600-190101400	Enhancers	NHDF-Ad	bronchial
6	chr2:190097200-190101400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:190097400-190098000	Enhancers	GM12878-XiMat	blood
8	chr2:190097400-190098600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:190097400-190098800	Enhancers	Hela-S3	cervix
10	chr2:190097400-190101400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:190097600-190098400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:190097600-190098600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:190097600-190098800	Enhancers	HMEC	breast
14	chr2:190097800-190098200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:190097800-190098200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:190097800-190098400	Flanking Active TSS	A549	lung
17	chr2:190097800-190098600	Enhancers	NHLF	lung
18	chr2:190097800-190098800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:190098000-190098800	Enhancers	NHEK	skin
20	chr2:190098200-190100400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:190098400-190098600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:190098400-190099600	Enhancers	A549	lung
23	chr2:190098600-190099200	Weak transcription	NHLF	lung
24	chr2:190098600-190100600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:190098600-190100600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:190098800-190099600	Weak transcription	Osteobl	bone
27	chr2:190098800-190099800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:190098800-190099800	Weak transcription	Hela-S3	cervix
29	chr2:190098800-190099800	Weak transcription	HMEC	breast
30	chr2:190098800-190100800	Weak transcription	NHEK	skin
31	chr2:190099200-190099400	Enhancers	NHLF	lung
32	chr2:190099400-190100800	Weak transcription	NHLF	lung
33	chr2:190099600-190100200	Weak transcription	A549	lung
34	chr2:190099600-190101200	Enhancers	Osteobl	bone
35	chr2:190099800-190100000	Enhancers	Hela-S3	cervix
36	chr2:190099800-190100000	Enhancers	HMEC	breast
37	chr2:190099800-190100000	Enhancers	HSMM	muscle
38	chr2:190099800-190100600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:190099800-190100800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:190100000-190100400	Weak transcription	HMEC	breast
41	chr2:190100000-190100400	Weak transcription	HSMM	muscle
42	chr2:190100200-190101000	Enhancers	A549	lung
43	chr2:190100400-190100800	Enhancers	HSMMtube	muscle
44	chr2:190100400-190101000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:190100400-190101000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:190100400-190101400	Enhancers	HMEC	breast
47	chr2:190100400-190101400	Enhancers	HSMM	muscle
48	chr2:190100600-190101200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:190100800-190101000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:190100800-190101000	Enhancers	NHEK	skin

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