Variant report

Variant	rs10225883
Chromosome Location	chr7:126681004-126681005
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126678600-126685844..7:127233104-127239235	H1-hESC	embryonic stem cell:	embryo
2	7:126085913-126088095..7:126678600-126685844	K562	blood:
3	7:126678600-126685844..7:127009457-127018926	H1-hESC	embryonic stem cell:	embryo
4	7:126678600-126685844..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000106328	Chromatin interaction
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1006728	0.89[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap]
rs1018854	0.89[ASW][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap]
rs10252623	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10954144	0.89[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap]
rs11563708	0.87[JPT][hapmap]
rs11563717	0.87[JPT][hapmap]
rs11563719	0.81[CHD][hapmap];0.87[JPT][hapmap]
rs11563728	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs11760208	0.81[CHD][hapmap];0.87[JPT][hapmap]
rs1361954	0.81[JPT][hapmap]
rs1361963	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs1419424	0.87[JPT][hapmap]
rs1419446	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs17863189	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17864136	0.87[JPT][hapmap]
rs17864137	0.87[JPT][hapmap]
rs1894731	0.80[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2010184	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs2237780	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2237784	0.94[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap]
rs2237786	0.94[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap]
rs2237789	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs2237790	0.84[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap]
rs2237791	0.81[CHD][hapmap];0.87[JPT][hapmap]
rs2237792	0.87[JPT][hapmap]
rs2283090	0.80[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2283091	0.80[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2283092	0.80[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2283093	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs2283095	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs2283096	0.87[JPT][hapmap]
rs2299523	0.83[YRI][hapmap]
rs2299525	1.00[ASW][hapmap];0.93[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299530	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs2299535	0.81[CHD][hapmap];0.87[JPT][hapmap]
rs2299537	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs2299538	0.81[CHD][hapmap];0.87[JPT][hapmap]
rs2299539	0.87[JPT][hapmap]
rs2299541	0.81[CHD][hapmap];0.87[JPT][hapmap]
rs3808122	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs3808126	0.93[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808127	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4141410	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs6467104	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6467105	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6942923	0.80[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6949620	0.87[JPT][hapmap]
rs6950012	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6964926	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6975798	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs6978939	0.80[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6979287	0.94[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6979572	0.89[CHB][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];0.86[MEX][hapmap]
rs7778276	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs7778308	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7791539	0.87[JPT][hapmap]
rs7792406	0.93[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs951111	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831121	chr7:126593363-126774413	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	esv3327508	chr7:126678741-126681489	Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3395612	chr7:126678991-126681264	Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3431188	chr7:126680945-126681393	Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10225883	IMPDH1	cis	cerebellum	SCAN
rs10225883	SND1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126676600-126682000	Weak transcription	Liver	Liver

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