Variant report

Variant	rs998234
Chromosome Location	chr4:74490557-74490558
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	SPI1	chr4:74490201-74490653	HL-60	blood:	n/a	chr4:74490579-74490592 chr4:74490314-74490327 chr4:74490578-74490591 chr4:74490580-74490589 chr4:74490392-74490401 chr4:74490393-74490400
2	SPI1	chr4:74490316-74490692	HL-60	blood:	n/a	chr4:74490579-74490592 chr4:74490578-74490591 chr4:74490580-74490589 chr4:74490392-74490401 chr4:74490393-74490400

Variant related genes	Relation type
RASSF6	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10009599	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10012612	0.87[AMR][1000 genomes]
rs10030350	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10213182	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1074084	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247602	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247604	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247676	0.84[AMR][1000 genomes]
rs1247678	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12641279	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12647259	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12648230	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528919	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28489750	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28825382	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28829089	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28831192	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57165686	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60755652	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6833774	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6842636	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7655717	0.81[EUR][1000 genomes];0.87[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74485800-74490600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:74486200-74497200	Weak transcription	Gastric	stomach
3	chr4:74488000-74495600	Weak transcription	Fetal Lung	lung
4	chr4:74490200-74490600	Enhancers	Dnd41	blood
5	chr4:74490200-74491200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:74490200-74491200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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