Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:90620993..90625952-chr5:90626297..90629321,4	K562	blood:
2	chr5:90620286..90631493-chr5:90673961..90680952,22	K562	blood:
3	chr5:90620286..90621893-chr5:90673797..90676777,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

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

rs_ID	r²[population]
rs10057046	0.96[ASN][1000 genomes]
rs10462494	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10462495	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356765	0.89[ASN][1000 genomes]
rs2048453	0.89[ASN][1000 genomes]
rs2048454	0.85[CHB][hapmap];0.92[TSI][hapmap]
rs2137007	0.93[ASN][1000 genomes]
rs4916706	0.85[CHB][hapmap]
rs4916707	0.85[CHB][hapmap]
rs4916853	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.89[ASN][1000 genomes]
rs4916857	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.95[ASN][1000 genomes]
rs56066934	0.80[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs59578984	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6865066	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.95[ASN][1000 genomes]
rs6877420	0.93[ASN][1000 genomes]
rs6880312	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892424	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7704529	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.95[ASN][1000 genomes]
rs7705128	0.85[CHB][hapmap]
rs7712260	0.84[TSI][hapmap]
rs7721772	0.95[ASN][1000 genomes]
rs7727557	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732832	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9293562	0.88[ASN][1000 genomes]
rs9293564	0.96[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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	esv2421594	chr5:90614420-90621069	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv21145	chr5:90618564-90623946	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90613800-90624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:90619000-90629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:90620000-90621200	Enhancers	Stomach Smooth Muscle	stomach
4	chr5:90620400-90621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:90620400-90627600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:90620600-90621200	Enhancers	Colon Smooth Muscle	Colon
7	chr5:90620600-90621200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:90621000-90621200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:90621000-90621200	Enhancers	A549	lung
10	chr5:90621000-90621800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:90621000-90624600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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