Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37787494..37789830-chr5:37791340..37793727,2	K562	blood:
2	chr5:37785209..37787852-chr5:37790346..37791903,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10054159	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10063743	0.97[ASN][1000 genomes]
rs10069455	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10070843	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10071586	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10076344	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10076391	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10473068	0.97[ASN][1000 genomes]
rs10473069	0.91[CEU][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10941365	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11111	0.83[MEX][hapmap]
rs12055296	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2910704	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2973041	0.95[JPT][hapmap]
rs2973042	0.95[JPT][hapmap]
rs60025605	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60262907	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7730024	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9292673	0.97[ASN][1000 genomes]
rs9292674	0.92[CEU][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.99[AMR][1000 genomes];0.93[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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37787200-37793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:37787600-37791800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:37787600-37792800	Weak transcription	NHLF	lung
4	chr5:37787800-37793000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:37788000-37792800	Weak transcription	NH-A	brain
6	chr5:37788000-37793000	Weak transcription	HSMMtube	muscle
7	chr5:37788200-37792600	Weak transcription	NHDF-Ad	bronchial
8	chr5:37788200-37792800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:37788200-37793000	Weak transcription	HMEC	breast
10	chr5:37788400-37792800	Weak transcription	HSMM	muscle
11	chr5:37788800-37792600	Weak transcription	Osteobl	bone
12	chr5:37790200-37792800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:37790600-37791800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:37790600-37791800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:37790600-37792800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:37790800-37793400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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