Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114114566..114117543-chr6:114133160..114134719,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1026641	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs352090	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132138	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45477193	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548031	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55884650	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55938064	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs594930	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60077422	0.89[ASN][1000 genomes]
rs612084	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72942608	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72942611	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72942612	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72944607	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72944627	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72944632	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72944642	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72944645	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72960753	0.92[AMR][1000 genomes]
rs72960758	0.92[AMR][1000 genomes]
rs72960768	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72960775	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs773188	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114108400-114116800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr6:114114400-114117400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:114115600-114117400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

Quick Search: