Variant report

Variant	rs622216
Chromosome Location	chr6:140254761-140254762
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:140247244..140249348-chr6:140253799..140256796,2	K562	blood:
2	chr6:140254581..140256124-chr6:140264719..140266330,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1028469	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525047	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12526885	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12663217	0.95[ASN][1000 genomes]
rs12663483	0.99[ASN][1000 genomes]
rs12665399	0.96[ASN][1000 genomes]
rs13194827	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13204837	0.97[ASN][1000 genomes]
rs1416289	0.96[ASN][1000 genomes]
rs1933742	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1953788	1.00[ASN][1000 genomes]
rs1953789	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs586246	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587235	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs592056	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592440	0.80[AFR][1000 genomes]
rs598498	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs599378	0.82[AMR][1000 genomes]
rs603310	0.80[AFR][1000 genomes]
rs609488	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs616279	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs618515	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62429515	0.98[ASN][1000 genomes]
rs62429516	0.98[ASN][1000 genomes]
rs62429517	0.98[ASN][1000 genomes]
rs647968	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67013338	0.98[ASN][1000 genomes]
rs679849	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs680290	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs681235	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6926807	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6928433	0.96[ASN][1000 genomes]
rs724061	0.96[ASN][1000 genomes]
rs7743656	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs856646	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373255	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9376482	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9385888	1.00[ASN][1000 genomes]
rs9389733	0.99[ASN][1000 genomes]
rs9399298	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9399299	0.99[ASN][1000 genomes]
rs9403134	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv830820	chr6:140059279-140255292	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140242400-140260200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:140252800-140254800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:140254000-140254800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:140254000-140255000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:140254200-140255000	Enhancers	K562	blood
6	chr6:140254400-140254800	Enhancers	Monocytes-CD14+_RO01746	blood

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