Variant report

Variant	rs7129546
Chromosome Location	chr11:73211708-73211709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10501411	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11544311	0.83[AMR][1000 genomes]
rs11820577	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822984	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099129	0.83[AMR][1000 genomes]
rs12290785	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244596	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244602	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244616	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310361	0.88[EUR][1000 genomes]
rs17310374	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28400367	0.85[AMR][1000 genomes]
rs56742470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56857598	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56884659	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57354084	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57491850	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57673166	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58334887	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58564192	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60924672	0.83[AMR][1000 genomes]
rs61345051	1.00[AMR][1000 genomes]
rs6592526	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101561	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110369	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115055	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724111	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542929	0.91[AMR][1000 genomes]
rs73542938	0.92[AMR][1000 genomes]
rs73542952	0.83[AMR][1000 genomes]
rs73542960	1.00[AMR][1000 genomes]
rs73542967	1.00[AMR][1000 genomes]
rs73542976	1.00[AMR][1000 genomes]
rs73542979	1.00[AMR][1000 genomes]
rs73542990	0.91[AMR][1000 genomes]
rs73543000	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544710	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544711	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544716	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544720	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544729	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544767	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544783	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546720	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546735	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548680	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548688	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548693	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73550316	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925226	1.00[AMR][1000 genomes]
rs7927344	0.83[EUR][1000 genomes]
rs7930152	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930907	0.88[AFR][1000 genomes]
rs7931767	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933355	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934218	0.83[EUR][1000 genomes]
rs7945825	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950375	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951072	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv508641	chr11:73149281-73235528	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv520130	chr11:73183598-73223776	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7129546	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73141800-73231600	Weak transcription	Thymus	Thymus
2	chr11:73163800-73225600	Weak transcription	Fetal Stomach	stomach
3	chr11:73172800-73218800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:73182000-73230000	Weak transcription	Dnd41	blood
5	chr11:73202400-73240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:73205000-73239600	Weak transcription	Primary B cells from cord blood	blood
7	chr11:73205200-73219600	Weak transcription	Brain Germinal Matrix	brain
8	chr11:73205600-73236400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:73205800-73216600	Weak transcription	Primary T cells from cord blood	blood
10	chr11:73205800-73241400	Weak transcription	Pancreas	Pancrea
11	chr11:73206000-73216800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:73206000-73222000	Weak transcription	Left Ventricle	heart
13	chr11:73206200-73224600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:73206200-73232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:73206600-73217000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:73207600-73225600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:73209400-73221600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:73209800-73212600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:73209800-73219600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:73210200-73231400	Weak transcription	Primary hematopoietic stem cells	blood

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