Variant report

Variant	rs1421391
Chromosome Location	chr1:197470433-197470434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197468068..197470896-chr1:197476662..197478717,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1022908	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1033826	1.00[AMR][1000 genomes]
rs10494753	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10801606	1.00[AMR][1000 genomes]
rs10922235	1.00[AMR][1000 genomes]
rs12089070	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1421390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1421394	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1570412	1.00[AMR][1000 genomes]
rs1570413	1.00[AMR][1000 genomes]
rs1592707	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1592708	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1923758	1.00[AMR][1000 genomes]
rs1951697	0.85[AMR][1000 genomes]
rs1998433	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2146484	0.87[AMR][1000 genomes]
rs2146485	1.00[AMR][1000 genomes]
rs2160967	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2160968	1.00[ASN][1000 genomes]
rs2181373	1.00[AMR][1000 genomes]
rs2359119	1.00[AMR][1000 genomes]
rs2821099	1.00[AMR][1000 genomes]
rs3888104	1.00[AMR][1000 genomes]
rs3902057	1.00[AMR][1000 genomes]
rs4244150	0.87[AMR][1000 genomes]
rs4335404	1.00[AMR][1000 genomes]
rs4428919	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4989560	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428401	0.87[AMR][1000 genomes]
rs6428402	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6428403	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6428405	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428406	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6428407	0.88[AFR][1000 genomes]
rs6656674	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664766	1.00[AMR][1000 genomes]
rs6670147	1.00[AMR][1000 genomes]
rs6678776	0.87[AMR][1000 genomes]
rs6684593	1.00[AMR][1000 genomes]
rs6686241	1.00[AMR][1000 genomes]
rs6689739	1.00[AMR][1000 genomes]
rs6690015	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6691940	1.00[AMR][1000 genomes]
rs6694254	1.00[AMR][1000 genomes]
rs73073604	1.00[ASN][1000 genomes]
rs7514167	1.00[AMR][1000 genomes]
rs7515671	1.00[ASN][1000 genomes]
rs7515749	1.00[AMR][1000 genomes]
rs7525737	0.87[AMR][1000 genomes]
rs7530158	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs927511	1.00[AMR][1000 genomes]
rs942050	0.87[AMR][1000 genomes]
rs980370	1.00[AMR][1000 genomes]
rs980371	1.00[AMR][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	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521647	chr1:197464448-197529218	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197467200-197499000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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