Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:53700440..53702831-chr3:53710222..53712818,2	K562	blood:
2	chr3:53379336..53381314-chr3:53710176..53712329,2	K562	blood:
3	chr3:53708590..53712002-chr3:53712853..53715298,3	MCF-7	breast:
4	chr3:53705945..53708129-chr3:53709711..53711727,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157388	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1356657	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1356658	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1401493	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1401498	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2612017	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2612021	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs2633711	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs2633712	1.00[AMR][1000 genomes]
rs2633733	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2680653	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680655	1.00[AMR][1000 genomes]
rs6780679	1.00[AMR][1000 genomes]
rs6798837	1.00[AMR][1000 genomes]
rs72976490	1.00[AMR][1000 genomes]
rs746487	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7614320	1.00[YRI][hapmap]
rs7630968	1.00[AMR][1000 genomes]
rs898414	1.00[YRI][hapmap]
rs9311508	0.94[YRI][hapmap]
rs9845102	0.94[YRI][hapmap]
rs9857905	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs9875160	0.94[YRI][hapmap]
rs9875748	1.00[AMR][1000 genomes]
rs9878618	0.94[YRI][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:15 , 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	chr3:53698800-53711200	Weak transcription	Spleen	Spleen
4	chr3:53705400-53710600	Strong transcription	Fetal Intestine Small	intestine
5	chr3:53706200-53710800	Strong transcription	Fetal Intestine Large	intestine
6	chr3:53708200-53713600	Weak transcription	Fetal Brain Female	brain
7	chr3:53708400-53711800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:53708600-53710600	Weak transcription	Fetal Kidney	kidney
9	chr3:53708800-53711200	Weak transcription	Lung	lung
10	chr3:53708800-53711200	Weak transcription	Right Atrium	heart
11	chr3:53709000-53714000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:53709400-53713800	Weak transcription	Fetal Brain Male	brain
13	chr3:53710000-53711000	Weak transcription	Fetal Heart	heart
14	chr3:53710200-53711800	Strong transcription	Fetal Lung	lung
15	chr3:53710200-53714000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

Quick Search: