Variant report

Variant	rs448387
Chromosome Location	chr1:158657004-158657005
allele	C/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	IRF1	chr1:158655563-158657227	K562	blood:	n/a	chr1:158657050-158657060 chr1:158657049-158657063 chr1:158657049-158657061 chr1:158656597-158656611 chr1:158656599-158656610 chr1:158656598-158656612 chr1:158656598-158656608 chr1:158657050-158657064 chr1:158657050-158657061 chr1:158657048-158657061 chr1:158656598-158656609 chr1:158657048-158657061
2	ARID3A	chr1:158656270-158657331	K562	blood:	n/a	n/a
3	TAL1	chr1:158656999-158657032	K562	blood:	n/a	n/a
4	TBL1XR1	chr1:158655731-158657204	K562	blood:	n/a	n/a
5	POLR2A	chr1:158655573-158657125	PBDE	blood:	n/a	n/a
6	CEBPB	chr1:158656117-158657013	K562	blood:	n/a	n/a
7	GATA1	chr1:158655836-158657462	PBDE	blood:	n/a	n/a
8	EP300	chr1:158655784-158657475	K562	blood:	n/a	chr1:158657234-158657248
9	BACH1	chr1:158655817-158657137	K562	blood:	n/a	n/a
10	IRF1	chr1:158654489-158657481	K562	blood:	n/a	chr1:158657050-158657060 chr1:158657049-158657063 chr1:158657049-158657061 chr1:158656597-158656611 chr1:158656599-158656610 chr1:158656598-158656612 chr1:158656598-158656608 chr1:158657050-158657064 chr1:158654494-158654506 chr1:158657050-158657061 chr1:158657048-158657061 chr1:158656598-158656609 chr1:158657048-158657061

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158656464..158659384-chr1:159045094..159048407,3	K562	blood:

Variant related genes	Relation type
SPTA1	TF binding region
ENSG00000163568	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10908689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10908690	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	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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482958	0.94[AFR][1000 genomes]
rs2482967	1.00[AMR][1000 genomes]
rs2494031	1.00[AFR][1000 genomes]
rs2511194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2564857	0.98[AFR][1000 genomes]
rs2564858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2564859	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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs366221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs368029	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	0.98[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs450889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs452233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6682506	0.96[AFR][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	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158656400-158657200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:158657000-158657400	Flanking Active TSS	K562	blood

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