Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53708590..53712002-chr3:53712853..53715298,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11130377	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs11711045	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11711142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11715072	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs11720002	1.00[CEU][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11925053	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1380606	0.92[CHB][hapmap]
rs1401494	0.92[CHB][hapmap]
rs1460118	0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17238364	0.95[CEU][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1870564	0.90[CEU][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2612022	0.84[CHB][hapmap]
rs2633731	0.84[CHB][hapmap]
rs2680654	0.84[CHB][hapmap]
rs58086880	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60529666	0.85[EUR][1000 genomes]
rs6780648	0.90[CEU][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6804675	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs7630805	0.92[CHB][hapmap]
rs898411	0.95[CEU][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs898415	0.92[CHB][hapmap]
rs898416	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53683200-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:53698000-53714000	Weak transcription	Brain Substantia Nigra	brain
3	chr3:53708200-53713600	Weak transcription	Fetal Brain Female	brain
4	chr3:53709000-53714000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:53709400-53713800	Weak transcription	Fetal Brain Male	brain
6	chr3:53710200-53714000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:53710800-53713200	Weak transcription	Fetal Intestine Large	intestine
8	chr3:53711200-53714000	Weak transcription	Fetal Kidney	kidney
9	chr3:53711600-53713800	Weak transcription	Fetal Intestine Small	intestine
10	chr3:53711800-53713600	Weak transcription	Fetal Lung	lung
11	chr3:53711800-53713800	Weak transcription	Fetal Heart	heart
12	chr3:53711800-53714000	Weak transcription	Left Ventricle	heart
13	chr3:53711800-53714000	Weak transcription	Right Atrium	heart
14	chr3:53712200-53713600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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