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:24)

rs_ID	r²[population]
rs10456168	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10755768	0.80[AMR][1000 genomes]
rs10948790	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12190914	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2006013	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34299171	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6458973	0.82[AMR][1000 genomes]
rs6902746	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6907354	0.82[AMR][1000 genomes]
rs6909052	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6909056	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6909350	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6928440	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6935942	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs763815	0.86[ASN][1000 genomes]
rs7744962	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7769351	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7773779	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9357777	0.80[AMR][1000 genomes]
rs9367545	0.91[AMR][1000 genomes]
rs9370245	0.82[AMR][1000 genomes]
rs9395890	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9395891	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9395892	0.89[AMR][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:14 , 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	chr6:53824800-53827000	Enhancers	HSMMtube	muscle
5	chr6:53824800-53827800	Enhancers	HSMM	muscle
6	chr6:53825000-53825800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:53825200-53826600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:53825200-53827000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:53825200-53827200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:53825400-53826200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:53825400-53826400	Weak transcription	NH-A	brain
12	chr6:53825400-53826600	Weak transcription	HMEC	breast
13	chr6:53825400-53827000	Weak transcription	Osteobl	bone
14	chr6:53825400-53827600	Weak transcription	Placenta Amnion	Placenta Amnion

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