Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47297249..47299420-chr12:47327492..47329944,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11183642	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12367351	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372169	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097286	1.00[CEU][hapmap]
rs17097341	1.00[CEU][hapmap]
rs17097368	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17097467	1.00[CEU][hapmap]
rs2075335	1.00[CEU][hapmap]
rs2109125	1.00[CEU][hapmap]
rs2287473	1.00[CEU][hapmap]
rs2302855	1.00[CEU][hapmap]
rs2408635	1.00[ASN][1000 genomes]
rs2429465	1.00[CEU][hapmap]
rs2429466	1.00[CEU][hapmap]
rs2429467	1.00[CEU][hapmap]
rs2465586	1.00[CEU][hapmap]
rs2897981	1.00[CEU][hapmap]
rs4575360	0.93[EUR][1000 genomes]
rs57646407	0.82[EUR][1000 genomes]
rs57760966	0.82[EUR][1000 genomes]
rs73283973	0.82[EUR][1000 genomes]
rs7958193	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7963571	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7975604	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47285200-47298400	Weak transcription	HSMM	muscle
2	chr12:47285400-47297400	Weak transcription	NHDF-Ad	bronchial
3	chr12:47287600-47298400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:47291400-47298800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:47292600-47297600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:47294600-47298000	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr12:47296000-47298600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:47297200-47298400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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