Variant report

Variant	rs4899151
Chromosome Location	chr14:65348921-65348922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:65348397-65349026	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65344538..65346383-chr14:65347730..65349628,3	K562	blood:
2	chr14:65228067..65229645-chr14:65348002..65349763,2	K562	blood:
3	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
4	chr14:65347011..65349276-chr14:65350145..65352997,3	MCF-7	breast:
5	chr14:65348790..65350431-chr14:65354334..65355956,2	K562	blood:
6	chr14:65347870..65349476-chr14:65380923..65383635,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1003370	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10151551	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10162522	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1122339	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844283	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12147448	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17093568	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1951489	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1957422	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1957430	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957433	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983769	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2016653	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2104170	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs230721	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs230722	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2884307	0.93[ASN][1000 genomes]
rs368818	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs374461	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs375797	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs378391	0.91[EUR][1000 genomes]
rs3813424	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs389370	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs395112	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs397901	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs399508	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs406811	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs424222	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs426044	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs435006	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4902323	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4902324	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55983720	0.84[ASN][1000 genomes]
rs58989463	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61989891	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6573584	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7149121	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7149446	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7158624	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs762072	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8008229	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013371	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8022462	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9323455	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9323456	0.83[AMR][1000 genomes];0.97[EUR][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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr14:65348200-65349200	Weak transcription	K562	blood
2	chr14:65348800-65349000	Bivalent Enhancer	Fetal Brain Female	brain

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