Variant report

Variant	rs464687
Chromosome Location	chr21:16017441-16017442
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr21:16017261-16017662	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr21:16017241-16017589	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr21:16017349-16017625	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16014067..16015679-chr21:16016437..16019314,2	K562	blood:
2	chr21:15917203..15918714-chr21:16016911..16018862,2	K562	blood:

Variant related genes	Relation type
ENSG00000243440	TF binding region
ENSG00000155307	Chromatin interaction
ENSG00000243440	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11088124	0.81[ASN][1000 genomes]
rs11701328	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1292588	0.82[ASN][1000 genomes]
rs1292589	0.81[ASN][1000 genomes]
rs1292594	0.84[ASN][1000 genomes]
rs1292597	0.84[ASN][1000 genomes]
rs1350630	0.93[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1977014	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977015	0.93[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125751	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822819	0.94[CEU][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822822	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs372539	0.83[ASN][1000 genomes]
rs376583	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs383431	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs395625	1.00[CEU][hapmap]
rs407446	0.84[ASN][1000 genomes]
rs4171	0.80[CEU][hapmap];0.86[YRI][hapmap];0.84[ASN][1000 genomes]
rs421894	0.88[CEU][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs445139	0.81[ASN][1000 genomes]
rs455658	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs455821	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs456278	0.84[ASN][1000 genomes]
rs456716	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs457036	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs458104	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs458959	0.87[CEU][hapmap];0.83[ASN][1000 genomes]
rs459315	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs459837	0.82[ASN][1000 genomes]
rs460280	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs460643	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs460786	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs462339	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs462418	0.81[YRI][hapmap];0.84[ASN][1000 genomes]
rs464381	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs465674	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs466008	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs466464	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs466909	1.00[CEU][hapmap];0.97[YRI][hapmap]
rs467055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7275267	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7277131	0.94[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7280842	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808806	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs989877	0.94[CEU][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989878	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9977944	0.93[CEU][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9980813	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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	nsv834045	chr21:15900678-16112850	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv834046	chr21:15903792-16077369	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv3457	chr21:15996855-16042349	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 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	chr21:16017400-16017600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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