Variant report

Variant	rs11781843
Chromosome Location	chr8:95821289-95821290
allele	A/C
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	CTCF	chr8:95820687-95821324	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95815705..95817317-chr8:95819683..95821432,2	K562	blood:
2	chr8:95730308..95733697-chr8:95819325..95823735,5	MCF-7	breast:
3	chr8:95820853..95823547-chr8:95833687..95836070,2	MCF-7	breast:
4	chr8:95729949..95733435-chr8:95819627..95822552,3	MCF-7	breast:
5	chr8:95819563..95823488-chr8:95834071..95836286,3	MCF-7	breast:

Variant related genes	Relation type
INTS8	TF binding region
ENSG00000156162	Chromatin interaction
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10956927	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11774806	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11776131	1.00[ASN][1000 genomes]
rs11776489	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776687	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11777353	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11778250	0.93[ASN][1000 genomes]
rs11779041	0.93[ASN][1000 genomes]
rs11779252	0.91[ASN][1000 genomes]
rs11781099	0.99[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11781188	0.93[ASN][1000 genomes]
rs11781429	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782617	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11783522	0.82[AMR][1000 genomes]
rs11783589	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11784299	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786021	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11786088	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786389	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786429	1.00[ASN][1000 genomes]
rs11786451	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11787377	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11787442	0.97[ASN][1000 genomes]
rs12056517	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12056808	0.82[EUR][1000 genomes]
rs16917079	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917081	0.93[ASN][1000 genomes]
rs16917082	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917093	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17359493	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4073916	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075834	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4345531	0.93[ASN][1000 genomes]
rs4355737	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57063661	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57773845	0.97[ASN][1000 genomes]
rs58489999	0.93[ASN][1000 genomes]
rs58675831	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59091366	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59265059	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59521030	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60171840	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6986418	0.93[ASN][1000 genomes]
rs6989591	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73269162	0.97[ASN][1000 genomes]
rs73269170	0.97[ASN][1000 genomes]
rs73269188	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73269191	0.93[ASN][1000 genomes]
rs73269198	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73269199	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73271148	0.81[EUR][1000 genomes]
rs7834966	0.83[EUR][1000 genomes];0.97[ASN][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11781843	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95815800-95826600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:95818000-95824400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:95819800-95822600	Weak transcription	K562	blood

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