Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193278831..193281836-chr1:193282854..193285758,3	K562	blood:
2	chr1:193282788..193284410-chr1:193285163..193288085,2	K562	blood:

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

rs_ID	r²[population]
rs10801194	0.91[ASN][1000 genomes]
rs12124282	0.82[EUR][1000 genomes]
rs1221502	0.94[ASN][1000 genomes]
rs1416977	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1616234	0.91[ASN][1000 genomes]
rs1770000	0.83[EUR][1000 genomes]
rs1972344	0.96[ASN][1000 genomes]
rs1972345	0.96[ASN][1000 genomes]
rs2477549	0.91[ASN][1000 genomes]
rs2486843	0.84[EUR][1000 genomes]
rs523402	0.93[ASN][1000 genomes]
rs531327	0.82[EUR][1000 genomes]
rs560900	0.96[ASN][1000 genomes]
rs569656	0.93[ASN][1000 genomes]
rs578639	0.94[ASN][1000 genomes]
rs693519	0.93[ASN][1000 genomes]
rs817138	0.93[ASN][1000 genomes]
rs817140	0.91[ASN][1000 genomes]
rs817142	0.96[ASN][1000 genomes]
rs817143	0.96[ASN][1000 genomes]
rs843844	0.93[ASN][1000 genomes]
rs9887974	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active 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	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193281000-193284400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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