Variant report

Variant	rs7253831
Chromosome Location	chr19:51753960-51753961
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	SP1	chr19:51753958-51754379	H1-hESC	embryonic stem cell:	n/a	chr19:51753996-51754008 chr19:51753996-51754008 chr19:51754052-51754066 chr19:51754003-51754024
2	NFYB	chr19:51753890-51754340	GM12878	blood:	n/a	chr19:51754151-51754166 chr19:51754183-51754198
3	SP1	chr19:51753944-51754388	H1-hESC	embryonic stem cell:	n/a	chr19:51753996-51754008 chr19:51753996-51754008 chr19:51754052-51754066 chr19:51754003-51754024
4	NFYB	chr19:51753855-51754429	K562	blood:	n/a	chr19:51754151-51754166 chr19:51754183-51754198

Variant related genes	Relation type
SIGLECL1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1034521	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10402797	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10406897	0.84[ASN][1000 genomes]
rs10412123	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10412214	0.81[ASN][1000 genomes]
rs11084061	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11084062	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11084063	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11084064	0.86[ASN][1000 genomes]
rs11668174	0.86[ASN][1000 genomes]
rs11672446	0.86[ASN][1000 genomes]
rs12461282	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12461354	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1319675	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1501447	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1501448	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1501449	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1566578	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17801843	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1803254	0.93[EUR][1000 genomes]
rs34606577	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7256372	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7256512	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73612300	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8103085	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9676731	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs989502	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs989504	0.83[EUR][1000 genomes];0.90[ASN][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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv519982	chr19:51750238-51758127	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv518134	chr19:51750238-51765953	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1060026	chr19:51751123-51773175	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51745800-51754000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:51750600-51754000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr19:51753200-51756400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:51753400-51754200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr19:51753400-51755600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:51753400-51755600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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