Variant report

Variant	rs59616608
Chromosome Location	chr8:61198959-61198960
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	chr8:61198736-61199059	K562	blood:	n/a	chr8:61198998-61199012
2	ZNF384	chr8:61198792-61199086	K562	blood:	n/a	n/a
3	SPI1	chr8:61198749-61198969	K562	blood:	n/a	n/a
4	EP300	chr8:61198764-61199175	K562	blood:	n/a	chr8:61198997-61199011

No.	Distal block	Cell Line	Cell type
1	chr8:61197631..61199694-chr8:61208283..61210398,2	K562	blood:
2	chr8:61192442..61196221-chr8:61196731..61199098,4	MCF-7	breast:
3	chr8:61192521..61195456-chr8:61197936..61200011,2	MCF-7	breast:
4	chr8:61197740..61199374-chr8:61204878..61207311,3	K562	blood:

Variant related genes	Relation type
CA8	TF binding region
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10504308	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11996007	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11997891	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12155603	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12676801	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679218	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16925975	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16926000	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1842391	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737555	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4738802	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55948763	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56275436	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57360505	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58620061	0.88[AFR][1000 genomes]
rs59700121	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60042864	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60690040	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61057972	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72648503	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72665113	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72665118	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665119	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665124	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665137	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7462854	0.87[ASN][1000 genomes]
rs7463394	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7820639	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7827209	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7839481	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9693218	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61198400-61199600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:61198600-61199000	Flanking Active TSS	K562	blood
3	chr8:61198600-61199200	Enhancers	Primary hematopoietic stem cells	blood
4	chr8:61198600-61199200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:61198600-61199400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:61198600-61199600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:61198800-61199200	Weak transcription	Gastric	stomach

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