Variant report

Variant	rs17104563
Chromosome Location	chr12:68323292-68323293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10492202	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10878704	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11176947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176951	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176955	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176956	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11176960	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11176962	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11176964	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12582501	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2870807	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4913265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4913372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4913373	0.99[ASN][1000 genomes]
rs4913375	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4913377	0.97[ASN][1000 genomes]
rs58642438	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60650476	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311747	0.97[ASN][1000 genomes]
rs7311772	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs73322794	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73324809	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7954639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972825	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9888334	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17104563	AKR1C2	trans	brain	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68310600-68329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:68317800-68324800	Enhancers	Stomach Mucosa	stomach
3	chr12:68318200-68334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:68320200-68323600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr12:68320400-68324000	Weak transcription	Right Ventricle	heart
6	chr12:68320400-68325800	Weak transcription	Gastric	stomach
7	chr12:68320600-68323400	Enhancers	Fetal Intestine Small	intestine
8	chr12:68320600-68331800	Weak transcription	Left Ventricle	heart
9	chr12:68321000-68324200	Enhancers	Fetal Heart	heart
10	chr12:68321400-68323400	Enhancers	HSMMtube	muscle
11	chr12:68321800-68324000	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:68322800-68323600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:68322800-68324600	Enhancers	Aorta	Aorta
14	chr12:68323000-68323400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:68323000-68323400	Enhancers	Fetal Intestine Large	intestine
16	chr12:68323000-68324200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr12:68323200-68323400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:68323200-68323400	Active TSS	Right Atrium	heart
19	chr12:68323200-68323400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr12:68323200-68323600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:68323200-68324200	Active TSS	Skeletal Muscle Male	skeletal muscle

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