Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:119884170..119886669-chr12:119907722..119909768,2	MCF-7	breast:
2	chr12:119883274..119886371-chr12:119915842..119918823,3	MCF-7	breast:
3	chr12:119882836..119888025-chr12:119914651..119920477,9	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11064793	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12297453	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303615	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12305024	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12322638	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1880985	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2519543	0.91[CHB][hapmap]
rs2727741	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs477467	0.91[CHB][hapmap]
rs487818	0.91[CHB][hapmap]
rs504481	0.83[CHB][hapmap]
rs518202	0.91[CHB][hapmap]
rs520809	0.91[CHB][hapmap]
rs529501	0.91[CHB][hapmap]
rs560785	0.92[CHB][hapmap]
rs56105768	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56211979	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67884573	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73217290	0.96[ASN][1000 genomes]
rs7971941	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs953693	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119882800-119886600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:119884000-119885000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:119884000-119885000	Enhancers	HSMMtube	muscle
4	chr12:119884600-119885000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:119884600-119885000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:119884600-119885400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:119884600-119885800	Enhancers	HSMM	muscle
8	chr12:119884800-119885000	Flanking Active TSS	A549	lung
9	chr12:119884800-119885200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:119884800-119885200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:119884800-119885200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:119884800-119885200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:119884800-119885600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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