Variant report

Variant	rs8082354
Chromosome Location	chr17:66566063-66566064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11077624	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11649763	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11649965	0.82[CHD][hapmap]
rs11651150	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11654873	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs11654879	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11655376	0.80[CHB][hapmap]
rs11656128	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3744506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59183747	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59251979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60871479	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67127022	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67717905	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67844728	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68005369	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222228	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833524	chr17:66524030-66705194	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8082354	AXIN2	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66538800-66575800	Weak transcription	Spleen	Spleen
2	chr17:66539200-66588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:66551800-66567400	Weak transcription	Fetal Stomach	stomach
4	chr17:66551800-66570600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:66551800-66572000	Weak transcription	Gastric	stomach
6	chr17:66551800-66587800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr17:66552000-66584200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr17:66552000-66585200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr17:66554600-66566400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:66558800-66566800	Weak transcription	Fetal Heart	heart
11	chr17:66561000-66568200	Weak transcription	Lung	lung
12	chr17:66562800-66566800	Weak transcription	Fetal Lung	lung
13	chr17:66563600-66568200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr17:66563600-66572400	Weak transcription	Right Atrium	heart
15	chr17:66563800-66568200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:66564000-66566600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:66564000-66568600	Weak transcription	Osteobl	bone
18	chr17:66564200-66566600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:66564200-66567800	Weak transcription	Liver	Liver
20	chr17:66564200-66572000	Weak transcription	Placenta	Placenta
21	chr17:66565400-66567400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:66566000-66567000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr17:66566000-66572000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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