Variant report

Variant	rs3744506
Chromosome Location	chr17:66562213-66562214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66508241..66510455-chr17:66561114..66563780,2	K562	blood:
2	chr17:66549645..66553348-chr17:66560847..66563979,4	MCF-7	breast:
3	chr17:66561395..66563836-chr17:66567665..66570201,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108946	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11077624	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11649763	1.00[CEU][hapmap];0.84[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11651150	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11654873	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs11654879	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11655376	0.80[CHB][hapmap]
rs11656128	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59183747	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59251979	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60871479	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67127022	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67717905	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67844728	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68005369	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7222228	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8082354	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]

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
rs3744506	AXIN2	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66534200-66563200	Weak transcription	Ovary	ovary
2	chr17:66537800-66562600	Weak transcription	HepG2	liver
3	chr17:66538800-66575800	Weak transcription	Spleen	Spleen
4	chr17:66539200-66588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr17:66540200-66563400	Weak transcription	Placenta	Placenta
6	chr17:66544800-66563600	Weak transcription	Stomach Mucosa	stomach
7	chr17:66551800-66567400	Weak transcription	Fetal Stomach	stomach
8	chr17:66551800-66570600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:66551800-66572000	Weak transcription	Gastric	stomach
10	chr17:66551800-66587800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr17:66552000-66584200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:66552000-66585200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr17:66552200-66562400	Weak transcription	Osteobl	bone
14	chr17:66554600-66566400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:66558800-66566800	Weak transcription	Fetal Heart	heart
16	chr17:66560200-66563400	Weak transcription	Aorta	Aorta
17	chr17:66560200-66564000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:66561000-66563400	Weak transcription	Esophagus	oesophagus
19	chr17:66561000-66568200	Weak transcription	Lung	lung
20	chr17:66561200-66563400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:66561800-66562400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:66561800-66562600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:66561800-66563400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:66562000-66562400	Enhancers	Brain Hippocampus Middle	brain
25	chr17:66562000-66562800	Enhancers	Fetal Lung	lung
26	chr17:66562000-66563600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr17:66562000-66563800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:66562000-66564000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:66562000-66564200	Enhancers	Liver	Liver
30	chr17:66562200-66562600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr17:66562200-66563200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr17:66562200-66563200	Enhancers	Duodenum Smooth Muscle	Duodenum

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