Variant report

Variant	rs6130091
Chromosome Location	chr20:40885106-40885107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:40878824..40881053-chr20:40884684..40887030,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11907769	0.91[ASN][1000 genomes]
rs16986670	0.88[ASN][1000 genomes]
rs1883378	0.84[EUR][1000 genomes]
rs1984399	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2143008	0.84[EUR][1000 genomes]
rs2179336	0.84[EUR][1000 genomes]
rs2206168	0.84[EUR][1000 genomes]
rs2206169	0.85[EUR][1000 genomes]
rs2223425	0.85[EUR][1000 genomes]
rs2867061	0.81[EUR][1000 genomes]
rs2867062	0.81[EUR][1000 genomes]
rs4140521	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4331574	0.89[EUR][1000 genomes]
rs4375930	0.84[ASN][1000 genomes]
rs4425144	0.86[EUR][1000 genomes]
rs4507153	0.85[EUR][1000 genomes]
rs6016716	0.87[EUR][1000 genomes]
rs6016722	0.87[ASN][1000 genomes]
rs6016726	0.96[EUR][1000 genomes]
rs6030033	0.86[EUR][1000 genomes]
rs6030056	0.93[EUR][1000 genomes]
rs6030058	0.90[ASN][1000 genomes]
rs6030069	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6030070	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6030071	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6030072	0.87[ASN][1000 genomes]
rs6030076	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6030078	0.94[EUR][1000 genomes]
rs6030081	0.94[EUR][1000 genomes]
rs6030082	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6030083	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6030084	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6030085	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6030087	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6030088	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6030089	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6030096	0.97[EUR][1000 genomes]
rs6030100	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6030101	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6065450	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6065451	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6072651	0.88[EUR][1000 genomes]
rs6072672	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6093595	0.84[ASN][1000 genomes]
rs6093598	0.85[ASN][1000 genomes]
rs6124435	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6513772	0.85[ASN][1000 genomes]
rs727336	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs728373	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs728374	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs742291	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs926647	0.96[EUR][1000 genomes]
rs932358	0.88[EUR][1000 genomes]
rs979634	0.82[EUR][1000 genomes]

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	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40884200-40885800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr20:40884200-40885800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr20:40884800-40885200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:40885000-40885400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr20:40885000-40885600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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