Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182906361..182909184-chr2:182914653..182916987,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10497590	0.93[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1153731	0.80[TSI][hapmap]
rs1196155	1.00[CEU][hapmap];0.82[GIH][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs1196157	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1196160	1.00[CEU][hapmap];0.84[GIH][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs1196167	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs1196183	0.84[EUR][1000 genomes]
rs1196185	0.94[CEU][hapmap]
rs12617778	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693291	0.94[CEU][hapmap]
rs12693292	0.94[CEU][hapmap]
rs13003589	0.94[CEU][hapmap]
rs1400009	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1400010	0.85[EUR][1000 genomes]
rs16822401	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16822409	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16822412	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1913896	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs2701664	1.00[CEU][hapmap];0.84[GIH][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs2701665	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3754930	0.85[GIH][hapmap]
rs6433953	0.94[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4666807	PPP1R1C	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182903200-182928400	Weak transcription	Left Ventricle	heart
2	chr2:182904000-182912000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:182904200-182908200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:182904200-182908400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:182904200-182908400	Weak transcription	HMEC	breast
6	chr2:182904200-182908400	Weak transcription	NHEK	skin
7	chr2:182905000-182908400	Weak transcription	Right Ventricle	heart
8	chr2:182906600-182907400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:182906600-182907600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:182906600-182907600	Enhancers	NHLF	lung
11	chr2:182906800-182907600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:182907000-182907400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:182907000-182907400	Enhancers	Osteobl	bone
14	chr2:182907000-182907600	Enhancers	NHDF-Ad	bronchial
15	chr2:182907200-182907600	Enhancers	Right Atrium	heart
16	chr2:182907200-182907600	Enhancers	Skeletal Muscle Female	skeletal muscle

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