Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52845560..52852709-chr5:52853019..52860470,9	K562	blood:

Variant related genes	Relation type
ENSG00000164258	Chromatin interaction

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10063311	0.84[ASN][1000 genomes]
rs10072971	0.89[ASN][1000 genomes]
rs1030228	0.89[ASN][1000 genomes]
rs12521381	0.90[ASN][1000 genomes]
rs1465445	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1532163	0.89[JPT][hapmap]
rs1552649	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs1559266	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs1844696	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs198941	0.89[JPT][hapmap]
rs2130744	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs256087	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs256090	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs256095	0.89[JPT][hapmap]
rs256107	0.89[JPT][hapmap]
rs256108	0.89[JPT][hapmap]
rs256110	0.89[JPT][hapmap]
rs256116	0.89[JPT][hapmap]
rs256117	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs31303	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs370594	0.89[JPT][hapmap]
rs399141	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs403207	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs423014	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs424955	0.89[JPT][hapmap]
rs435187	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs439552	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7728496	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs889292	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs923609	0.86[CHB][hapmap]

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	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv880689	chr5:52847995-53002783	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52850400-52851200	Enhancers	K562	blood
2	chr5:52850600-52851000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:52850600-52851200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:52850800-52851200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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