Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:178847683..178848498-chr2:178934196..178934757,2	MCF-7	breast:
2	chr2:178848036..178848545-chr2:178934223..178934902,2	MCF-7	breast:
3	chr2:178934356..178936456-chr2:179417127..179418784,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1020011	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11686720	0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12613904	0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1358300	1.00[EUR][1000 genomes]
rs1369518	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1435573	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs1435574	0.88[YRI][hapmap]
rs1527288	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2117739	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2164330	0.88[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2366352	0.88[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2886651	0.88[YRI][hapmap]
rs2886653	0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs334049	1.00[EUR][1000 genomes]
rs334106	1.00[EUR][1000 genomes]
rs379552	1.00[EUR][1000 genomes]
rs6433711	1.00[EUR][1000 genomes]
rs6706521	1.00[EUR][1000 genomes]
rs6729893	1.00[EUR][1000 genomes]
rs6741013	1.00[EUR][1000 genomes]
rs6746482	0.91[YRI][hapmap]
rs6761951	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs920095	0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9288013	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs934567	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs959775	0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178931600-178937000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:178932000-178936600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:178933200-178935600	Enhancers	K562	blood
4	chr2:178934200-178937000	Enhancers	Liver	Liver
5	chr2:178934400-178935200	Weak transcription	Stomach Mucosa	stomach
6	chr2:178934400-178935800	Enhancers	HepG2	liver
7	chr2:178934400-178936200	Weak transcription	Pancreas	Pancrea
8	chr2:178934600-178934800	Enhancers	Fetal Intestine Large	intestine
9	chr2:178934600-178935600	Weak transcription	Fetal Intestine Small	intestine

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