Variant report

Variant	rs2244241
Chromosome Location	chr10:96143000-96143001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10786168	0.91[MEX][hapmap];0.86[TSI][hapmap]
rs1079504	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10882452	0.84[AMR][1000 genomes]
rs10882454	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10882460	0.91[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10882463	0.91[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10882470	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10882474	0.91[MEX][hapmap];0.86[TSI][hapmap]
rs11187937	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11187939	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11187944	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11187948	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11187952	0.91[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11187958	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11187966	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11187972	0.83[EUR][1000 genomes]
rs11187973	0.86[EUR][1000 genomes]
rs11187980	0.86[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11187998	0.91[GIH][hapmap];0.85[JPT][hapmap]
rs11188005	0.86[EUR][1000 genomes]
rs11188009	0.91[MEX][hapmap];0.84[TSI][hapmap]
rs11188017	0.81[EUR][1000 genomes]
rs11188019	0.91[MEX][hapmap];0.82[TSI][hapmap]
rs11188026	0.81[EUR][1000 genomes]
rs11188030	0.80[EUR][1000 genomes]
rs11527881	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12218213	0.84[CEU][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs12218216	0.84[CEU][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs12219906	0.84[CEU][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs12220588	0.84[CEU][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs12221475	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12573638	0.92[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs12762574	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1749352	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1749355	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749356	0.85[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1889485	0.85[EUR][1000 genomes]
rs1889486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1889487	0.84[EUR][1000 genomes]
rs1969815	0.92[CEU][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs1977290	0.83[EUR][1000 genomes]
rs1980741	0.84[EUR][1000 genomes]
rs2095380	0.84[EUR][1000 genomes]
rs2265362	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2265364	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2281791	0.91[MEX][hapmap];0.86[TSI][hapmap]
rs2860760	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2860821	0.84[CEU][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs2901764	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2901765	0.82[EUR][1000 genomes]
rs35774063	0.87[EUR][1000 genomes]
rs4316436	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4351744	0.91[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs4421688	0.80[EUR][1000 genomes]
rs4611135	0.92[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs479664	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4917505	0.80[EUR][1000 genomes]
rs4918333	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4918402	0.91[MEX][hapmap];0.82[TSI][hapmap]
rs4918403	0.82[EUR][1000 genomes]
rs493088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs517784	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs522111	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs541704	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs542540	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs556055	0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56020662	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs576517	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs581165	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583943	0.81[EUR][1000 genomes]
rs6583944	0.92[CEU][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs6583945	0.81[EUR][1000 genomes]
rs692872	0.91[MEX][hapmap];0.86[TSI][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7073639	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7078236	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7083898	0.84[EUR][1000 genomes]
rs7086462	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7087472	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7089094	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7393251	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7906843	0.87[MEX][hapmap];0.84[TSI][hapmap]
rs7913343	0.87[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7921721	0.91[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs912466	1.00[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9420641	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs945123	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs955694	0.92[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes]
rs9633699	0.86[AMR][1000 genomes];0.85[EUR][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	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv3398177	chr10:96139011-96169931	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3411992	chr10:96139011-96172041	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2244241	C19orf22	trans	cerebellum	SCAN
rs2244241	KIF11	cis	cerebellum	SCAN
rs2244241	HELLS	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96140600-96146000	Enhancers	Fetal Intestine Large	intestine
2	chr10:96142200-96143000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:96142400-96144000	Weak transcription	Stomach Mucosa	stomach
4	chr10:96142800-96143400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:96143000-96143600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr10:96143000-96145000	Enhancers	Monocytes-CD14+_RO01746	blood

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