Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53819656..53822349-chr6:53824906..53826764,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10948787	0.97[EUR][1000 genomes]
rs11751301	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12190914	0.91[ASN][1000 genomes]
rs2006013	0.94[ASN][1000 genomes]
rs2076496	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2076497	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4398734	0.81[ASN][1000 genomes]
rs4712050	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4712051	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5006063	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61068246	0.94[EUR][1000 genomes]
rs62396285	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6902746	0.94[ASN][1000 genomes]
rs6927232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6928440	0.94[ASN][1000 genomes]
rs742525	0.81[ASN][1000 genomes]
rs763813	1.00[EUR][1000 genomes]
rs763815	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7744962	0.85[ASN][1000 genomes]
rs7750173	0.82[EUR][1000 genomes]
rs7769351	0.94[ASN][1000 genomes]
rs7773779	0.94[ASN][1000 genomes]
rs9296727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9395890	0.92[ASN][1000 genomes]
rs9395893	0.81[ASN][1000 genomes]
rs9395894	0.81[ASN][1000 genomes]
rs9474687	0.92[EUR][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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53795600-53826200	Weak transcription	NHEK	skin
2	chr6:53819000-53827000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:53821600-53826400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:53824400-53825600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:53824800-53827000	Enhancers	HSMMtube	muscle
6	chr6:53824800-53827800	Enhancers	HSMM	muscle
7	chr6:53825000-53825800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:53825200-53826600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:53825200-53827000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:53825200-53827200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:53825400-53826200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:53825400-53826400	Weak transcription	NH-A	brain
13	chr6:53825400-53826600	Weak transcription	HMEC	breast
14	chr6:53825400-53827000	Weak transcription	Osteobl	bone
15	chr6:53825400-53827600	Weak transcription	Placenta Amnion	Placenta Amnion

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