Variant report

Variant	rs10112232
Chromosome Location	chr8:95825034-95825035
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	CTCF	chr8:95824900-95825050	HFF	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95823624..95825340-chr8:95828909..95830568,2	K562	blood:
2	chr8:95824061..95826384-chr8:95834647..95837331,2	MCF-7	breast:
3	chr8:95823792..95825666-chr8:95907097..95909156,2	K562	blood:

Variant related genes	Relation type
INTS8	TF binding region
ENSG00000164941	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10096090	0.91[ASN][1000 genomes]
rs10098563	0.80[ASN][1000 genomes]
rs10100651	0.81[ASN][1000 genomes]
rs10441538	0.92[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1129152	0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs11996455	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12155666	0.88[ASN][1000 genomes]
rs12545815	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12550765	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs12679044	0.88[CEU][hapmap]
rs13271375	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs13271644	0.87[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3779789	0.88[ASN][1000 genomes]
rs4073755	0.93[ASN][1000 genomes]
rs4075835	0.84[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4500055	0.87[CEU][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs4734291	0.83[GIH][hapmap]
rs6471497	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs6471504	0.86[CHB][hapmap]
rs6991067	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs7002058	0.91[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7004862	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs713113	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.85[ASN][1000 genomes]
rs7817862	0.88[ASN][1000 genomes]
rs7845219	0.86[GIH][hapmap]
rs896854	0.81[GIH][hapmap]
rs9643349	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9650133	0.95[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10112232	RAD54B	cis	cerebellum	SCAN
rs10112232	INTS8	Cis_1M	lymphoblastoid	RTeQTL
rs10112232	RBM12B	cis	cerebellum	SCAN
rs10112232	TP53INP1	cis	parietal	SCAN
rs10112232	PLEKHF2	cis	parietal	SCAN
rs10112232	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95815800-95826600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:95824000-95826600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr8:95824200-95826800	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr8:95824600-95825400	Weak transcription	Fetal Intestine Small	intestine
5	chr8:95824600-95825400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:95824800-95825200	Weak transcription	Duodenum Mucosa	Duodenum

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