Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57957161..57959249-chr1:57964483..57967237,2	K562	blood:

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12129740	0.88[AFR][1000 genomes]
rs12140020	0.83[AFR][1000 genomes]
rs17115785	0.88[AFR][1000 genomes]
rs17115788	0.88[AFR][1000 genomes]
rs17115791	0.88[AFR][1000 genomes]
rs17115796	0.88[AFR][1000 genomes]
rs17115804	0.88[AFR][1000 genomes]
rs17115825	0.88[AFR][1000 genomes]
rs17115830	0.88[AFR][1000 genomes]
rs17115832	0.88[AFR][1000 genomes]
rs17115833	0.88[AFR][1000 genomes]
rs17115846	0.88[AFR][1000 genomes]
rs2691464	0.93[EUR][1000 genomes]
rs4265451	1.00[ASN][1000 genomes]
rs4426003	1.00[ASN][1000 genomes]
rs55813143	0.94[AFR][1000 genomes]
rs56252125	0.88[AFR][1000 genomes]
rs57286771	0.88[AFR][1000 genomes]
rs59914221	0.88[AFR][1000 genomes]
rs74074723	0.88[AFR][1000 genomes]
rs74074724	0.88[AFR][1000 genomes]
rs74074727	0.94[AFR][1000 genomes]
rs74074728	0.88[AFR][1000 genomes]
rs74074729	0.88[AFR][1000 genomes]
rs74074730	0.88[AFR][1000 genomes]
rs74074732	0.88[AFR][1000 genomes]
rs74074734	0.88[AFR][1000 genomes]
rs74074736	0.88[AFR][1000 genomes]
rs74074749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074753	0.82[AFR][1000 genomes]
rs9436133	0.93[EUR][1000 genomes]
rs9436544	0.87[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	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1012555	chr1:57950355-58103389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57955200-57972800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:57957200-57958600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:57957200-57958800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:57957400-57958600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:57957600-57958400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:57957600-57958800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:57957800-57958400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:57957800-57958800	Enhancers	Fetal Brain Male	brain
9	chr1:57958200-57958400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:57958200-57958400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:57958200-57958600	Enhancers	HUES48 Cell Line	embryonic stem cell

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