Variant report

Variant	rs60344524
Chromosome Location	chr7:65981873-65981874
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10081172	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10225392	0.81[ASN][1000 genomes]
rs10226294	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10228381	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10229580	0.83[ASN][1000 genomes]
rs10236665	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10239200	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10240153	0.83[ASN][1000 genomes]
rs10240582	0.83[ASN][1000 genomes]
rs10244602	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10247852	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10255813	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10264619	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10265154	0.83[ASN][1000 genomes]
rs10266041	0.85[ASN][1000 genomes]
rs10270326	0.88[ASN][1000 genomes]
rs10271177	0.83[ASN][1000 genomes]
rs10273402	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10275413	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10277231	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10278763	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10280717	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10281544	0.83[ASN][1000 genomes]
rs12333749	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16868546	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17138274	0.83[ASN][1000 genomes]
rs1862086	0.84[EUR][1000 genomes]
rs1882656	0.83[ASN][1000 genomes]
rs1882657	0.81[ASN][1000 genomes]
rs1895134	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2420598	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28455065	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28474923	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28526115	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28606020	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28657758	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3764904	0.85[ASN][1000 genomes]
rs3814464	0.80[ASN][1000 genomes]
rs4587218	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57902746	0.83[ASN][1000 genomes]
rs58123804	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58973756	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59079543	0.83[ASN][1000 genomes]
rs61700307	0.83[ASN][1000 genomes]
rs6949083	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6964080	0.88[ASN][1000 genomes]
rs6973897	0.88[ASN][1000 genomes]
rs73133809	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73133816	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73133859	0.83[ASN][1000 genomes]
rs73133865	0.83[ASN][1000 genomes]
rs73135905	0.83[ASN][1000 genomes]
rs73135907	0.83[ASN][1000 genomes]
rs73135909	0.83[ASN][1000 genomes]
rs73135917	0.83[ASN][1000 genomes]
rs73135922	0.83[ASN][1000 genomes]
rs73135925	0.83[ASN][1000 genomes]
rs73135950	0.83[ASN][1000 genomes]
rs73135960	0.83[ASN][1000 genomes]
rs73135973	0.88[ASN][1000 genomes]
rs73137960	0.88[ASN][1000 genomes]
rs73137963	0.88[ASN][1000 genomes]
rs73137978	0.84[ASN][1000 genomes]
rs73148698	0.87[EUR][1000 genomes]
rs73152708	0.82[EUR][1000 genomes]
rs73152719	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9654843	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv1027068	chr7:65901543-65991211	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv970515	chr7:65975431-65983898	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs60344524	GS1-124K5.12	cis	Artery Tibial	GTEx
rs60344524	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs60344524	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65973800-65982600	Weak transcription	HepG2	liver
2	chr7:65975200-65989600	Weak transcription	Fetal Intestine Small	intestine
3	chr7:65980600-65989400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:65981400-66001000	Weak transcription	Fetal Brain Female	brain

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