Variant report

Variant	rs56412031
Chromosome Location	chr2:145557666-145557667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145551347..145554493-chr2:145556641..145558720,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs55647125	1.00[AMR][1000 genomes]
rs55665103	1.00[AMR][1000 genomes]
rs55701936	1.00[AMR][1000 genomes]
rs55836609	1.00[AMR][1000 genomes]
rs55924315	1.00[AMR][1000 genomes]
rs55964560	1.00[AFR][1000 genomes]
rs55992490	1.00[AMR][1000 genomes]
rs56049026	1.00[AMR][1000 genomes]
rs56769655	1.00[AMR][1000 genomes]
rs56790676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56824932	1.00[AMR][1000 genomes]
rs57273989	1.00[AMR][1000 genomes]
rs59039216	1.00[AMR][1000 genomes]
rs59274820	1.00[AMR][1000 genomes]
rs59373132	1.00[AMR][1000 genomes]
rs60176990	1.00[AMR][1000 genomes]
rs60328211	1.00[AMR][1000 genomes]
rs61697170	1.00[AMR][1000 genomes]
rs73962055	1.00[AMR][1000 genomes]
rs73962059	1.00[AMR][1000 genomes]
rs73962062	1.00[AMR][1000 genomes]
rs73962063	1.00[AMR][1000 genomes]
rs73962064	1.00[AMR][1000 genomes]
rs73962065	1.00[AMR][1000 genomes]
rs73962068	1.00[AMR][1000 genomes]
rs73962070	1.00[AMR][1000 genomes]
rs73962071	1.00[AMR][1000 genomes]
rs73962074	1.00[AMR][1000 genomes]
rs73962078	1.00[AMR][1000 genomes]
rs73962079	1.00[AMR][1000 genomes]
rs73962081	1.00[AMR][1000 genomes]
rs73962084	1.00[AMR][1000 genomes]
rs73962086	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962088	1.00[AMR][1000 genomes]
rs73962089	1.00[AMR][1000 genomes]
rs73962094	1.00[AMR][1000 genomes]
rs73962096	1.00[AMR][1000 genomes]
rs73962101	1.00[AMR][1000 genomes]
rs73963909	1.00[AMR][1000 genomes]
rs73963910	1.00[AMR][1000 genomes]
rs73963912	1.00[AMR][1000 genomes]
rs73963913	1.00[AMR][1000 genomes]
rs73963914	1.00[AMR][1000 genomes]
rs73963915	1.00[AMR][1000 genomes]
rs73963916	1.00[AMR][1000 genomes]
rs73963917	1.00[AMR][1000 genomes]
rs73963918	1.00[AMR][1000 genomes]
rs73963920	1.00[AMR][1000 genomes]
rs73963921	1.00[AMR][1000 genomes]
rs73963922	1.00[AMR][1000 genomes]
rs73963923	1.00[AMR][1000 genomes]
rs73963924	1.00[AMR][1000 genomes]
rs73963925	1.00[AMR][1000 genomes]
rs73963926	1.00[AMR][1000 genomes]
rs73963930	1.00[AMR][1000 genomes]
rs73963931	1.00[AMR][1000 genomes]
rs73963934	1.00[AMR][1000 genomes]
rs73963938	1.00[AMR][1000 genomes]
rs73963941	1.00[AMR][1000 genomes]
rs73963943	1.00[AMR][1000 genomes]
rs73963945	1.00[AMR][1000 genomes]
rs73963947	1.00[AMR][1000 genomes]
rs73963955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963960	1.00[AMR][1000 genomes]
rs73965119	1.00[AMR][1000 genomes]
rs73965120	1.00[AMR][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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145546400-145559400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145550400-145559600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:145550600-145559600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:145554200-145559400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:145554400-145558400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:145554400-145559400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:145554800-145559400	Weak transcription	Right Atrium	heart
8	chr2:145554800-145559600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:145556000-145559400	Weak transcription	K562	blood
10	chr2:145557000-145558400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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