Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:133592957..133596449-chr3:133596615..133599487,3	MCF-7	breast:
2	chr3:133590405..133593103-chr3:133594407..133597314,2	K562	blood:
3	chr3:133579983..133582900-chr3:133593134..133595437,2	K562	blood:
4	chr3:133593879..133596730-chr3:133611617..133613170,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1106735	1.00[ASN][1000 genomes]
rs1525885	0.94[ASN][1000 genomes]
rs1525887	0.89[ASN][1000 genomes]
rs1525888	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1917779	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1917781	0.82[AFR][1000 genomes]
rs2030821	0.89[ASN][1000 genomes]
rs2140920	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2692679	0.89[ASN][1000 genomes]
rs2692680	0.82[AFR][1000 genomes]
rs2692682	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692687	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2692688	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2692689	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2692693	0.89[ASN][1000 genomes]
rs2715612	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2715617	0.89[ASN][1000 genomes]
rs2715620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715630	0.99[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs57405758	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641134	0.90[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	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133588800-133595000	Weak transcription	Brain Substantia Nigra	brain
2	chr3:133590600-133594600	Weak transcription	Brain Germinal Matrix	brain
3	chr3:133590600-133606600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:133591400-133598200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:133591600-133594600	Weak transcription	Brain Anterior Caudate	brain
6	chr3:133592000-133602000	Weak transcription	Brain Angular Gyrus	brain
7	chr3:133592200-133596200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:133592400-133598400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:133592400-133602800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:133592400-133605800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:133593200-133594600	Enhancers	HUVEC	blood vessel
12	chr3:133594200-133594800	Enhancers	K562	blood
13	chr3:133594400-133594800	Enhancers	Spleen	Spleen

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