Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161335842..161338378-chr6:161412199..161414940,2	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction
ENSG00000272841	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1247298	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1247299	1.00[JPT][hapmap]
rs1247305	0.80[AMR][1000 genomes]
rs1247309	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs1247310	0.80[AMR][1000 genomes]
rs1247313	0.85[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs1247316	0.82[AMR][1000 genomes]
rs1247322	0.85[CEU][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs1247323	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1247325	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1247326	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs1247327	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1247329	0.85[CEU][hapmap]
rs1247330	0.84[CHD][hapmap];0.87[JPT][hapmap]
rs1247360	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs1247361	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1247363	0.85[CEU][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs2465834	0.81[JPT][hapmap]
rs2465876	0.93[JPT][hapmap]
rs2465877	0.85[CEU][hapmap];0.93[JPT][hapmap]
rs2489955	0.83[CHD][hapmap];0.93[JPT][hapmap]
rs2489956	0.93[JPT][hapmap]
rs935182	0.80[AMR][1000 genomes]
rs935183	0.80[AMR][1000 genomes]
rs9364580	0.85[CEU][hapmap];0.93[JPT][hapmap]

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	nsv830853	chr6:161180005-161376481	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	chr6:161334200-161347800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:161335800-161339400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:161336600-161339000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:161337000-161338800	Weak transcription	Small Intestine	intestine

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