Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127263364..127266213-chr5:127293562..127295793,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10052229	0.81[ASN][1000 genomes]
rs10071108	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10072806	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10477678	0.81[ASN][1000 genomes]
rs12173092	0.83[ASN][1000 genomes]
rs12173229	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12173231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654649	0.81[ASN][1000 genomes]
rs1520246	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164505	0.81[ASN][1000 genomes]
rs2263502	0.81[ASN][1000 genomes]
rs2409034	0.81[ASN][1000 genomes]
rs2681509	0.81[ASN][1000 genomes]
rs4836345	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56806325	0.81[ASN][1000 genomes]
rs6864814	0.83[ASN][1000 genomes]
rs6865186	0.81[ASN][1000 genomes]
rs6898966	0.81[ASN][1000 genomes]
rs73331900	0.81[ASN][1000 genomes]
rs73333527	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711172	0.81[ASN][1000 genomes]
rs9327457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127253000-127266200	Weak transcription	Fetal Heart	heart
2	chr5:127258400-127266400	Weak transcription	Gastric	stomach
3	chr5:127258400-127266400	Weak transcription	Pancreas	Pancrea
4	chr5:127260600-127265600	Weak transcription	HUVEC	blood vessel
5	chr5:127261200-127266000	Weak transcription	HSMMtube	muscle
6	chr5:127261800-127266000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:127261800-127266200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:127261800-127270200	Weak transcription	NHEK	skin
9	chr5:127262000-127266200	Weak transcription	Hela-S3	cervix
10	chr5:127262200-127265400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:127262200-127266000	Weak transcription	HMEC	breast
12	chr5:127262400-127265400	Weak transcription	A549	lung
13	chr5:127262800-127272000	Weak transcription	Small Intestine	intestine
14	chr5:127263800-127264400	Enhancers	Stomach Mucosa	stomach
15	chr5:127264200-127270400	Weak transcription	Rectal Mucosa Donor 31	rectum

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