Variant report

Variant	rs13221252
Chromosome Location	chr7:69763456-69763457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10229027	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10229155	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10234614	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10234844	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10234892	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10235487	0.81[ASN][1000 genomes]
rs10235781	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10237530	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10237685	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10244275	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10246631	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10251306	0.81[EUR][1000 genomes]
rs10251416	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10254839	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10256062	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10256186	0.81[EUR][1000 genomes]
rs10258298	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10258962	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10268924	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10277411	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10280622	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1035010	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10486874	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10486875	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10499812	0.81[EUR][1000 genomes]
rs10950199	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11766329	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12112638	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12155138	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12374873	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698855	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12698866	0.81[EUR][1000 genomes]
rs12698871	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12698877	0.82[AMR][1000 genomes]
rs12698895	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698896	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698897	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698899	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13226923	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13228123	0.81[ASN][1000 genomes]
rs1357759	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1404274	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1464786	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1464787	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464788	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1474368	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1524518	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1880368	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103132	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2222544	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2280613	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280614	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2866277	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35303761	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3846984	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460536	0.81[ASN][1000 genomes]
rs6460537	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6460541	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6460542	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460543	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651055	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6943555	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6950647	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6953344	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6954715	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954837	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957740	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6961345	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6962999	0.81[ASN][1000 genomes]
rs6967697	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6967986	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6969375	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6975279	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6976581	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7781401	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7781727	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7784584	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7787612	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7788024	0.81[AMR][1000 genomes]
rs7790729	0.85[ASN][1000 genomes]
rs7790934	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7792775	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792964	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7796080	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7798991	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7799308	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7805470	0.86[ASN][1000 genomes]
rs7808540	0.82[AMR][1000 genomes]
rs8180850	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs870920	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs873835	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9918496	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9918544	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv916345	chr7:69520612-69784809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv607431	chr7:69699074-69828729	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv888337	chr7:69707076-69952187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1028870	chr7:69742438-69879231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13221252	WBSCR17	cis	cerebellum	SCAN
rs13221252	VKORC1L1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69750000-69763800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:69761000-69763600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:69762800-69774200	Enhancers	Primary T cells from cord blood	blood
4	chr7:69763000-69763800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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