Variant report

Variant	rs450889
Chromosome Location	chr1:158659632-158659633
allele	A/G
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	GATA1	chr1:158658522-158659865	PBDE	blood:	n/a	n/a
2	IRF1	chr1:158658809-158659812	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158659297..158661841-chr1:158675200..158677714,2	K562	blood:

Variant related genes	Relation type
SPTA1	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10908689	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10908690	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807176	0.88[AFR][1000 genomes]
rs11808295	0.90[AFR][1000 genomes]
rs13375717	1.00[AMR][1000 genomes]
rs167819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2427800	1.00[AMR][1000 genomes]
rs2427801	1.00[AMR][1000 genomes]
rs2427802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435285	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435286	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482950	0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482951	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482955	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482958	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs2482967	1.00[AMR][1000 genomes]
rs2494031	0.89[YRI][hapmap];1.00[AFR][1000 genomes]
rs2511194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511195	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511197	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511199	0.88[YRI][hapmap]
rs2564857	0.89[YRI][hapmap];0.98[AFR][1000 genomes]
rs2564858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2564859	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2779115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2852638	1.00[AMR][1000 genomes]
rs2990516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3097413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3097414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs326000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs365037	0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs366221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs368029	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs378794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs385096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs399832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs405879	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs414409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs423141	0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs428594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs431295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs435080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs439265	0.85[AFR][1000 genomes]
rs443386	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs448387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs452233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6427446	0.89[YRI][hapmap]
rs6682506	0.96[AFR][1000 genomes]
rs703132	0.88[YRI][hapmap]

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	esv3491788	chr1:158537183-158725907	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3491789	chr1:158537242-158725858	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv872481	chr1:158625789-158712510	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv872482	chr1:158635852-158698532	Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv872483	chr1:158635852-158712510	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	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	chr1:158659000-158660000	Flanking Active TSS	K562	blood

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