Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:70862085..70864122-chr1:70865724..70868796,3	K562	blood:
2	chr1:70860587..70864293-chr1:70864361..70869013,4	K562	blood:
3	chr1:70819028..70821982-chr1:70865141..70867182,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118454	Chromatin interaction
ENSG00000197568	Chromatin interaction

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

rs_ID	r²[population]
rs11803222	1.00[EUR][1000 genomes]
rs17131260	1.00[EUR][1000 genomes]
rs17131275	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131280	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17131282	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17131286	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17131287	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17131288	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17131289	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17131292	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59856193	1.00[EUR][1000 genomes]
rs6413468	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72914698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916616	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72916621	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72929301	0.88[AFR][1000 genomes]
rs72931203	0.88[AFR][1000 genomes]
rs72931208	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7549628	0.94[AFR][1000 genomes];1.00[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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	esv1797324	chr1:70858435-70876569	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	n/a
4	nsv871100	chr1:70859397-70928786	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70865200-70866600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:70865600-70866600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:70865800-70866800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:70866000-70866600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:70866200-70866600	Enhancers	Brain Inferior Temporal Lobe	brain

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