Variant report

Variant	rs7927344
Chromosome Location	chr11:73207517-73207518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11235770	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11235809	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823913	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11828904	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12276892	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12277924	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285885	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288753	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12290623	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12290701	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132115	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938777	0.84[AMR][1000 genomes]
rs2298469	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56742470	0.83[EUR][1000 genomes]
rs58573166	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59806295	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60860405	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61516411	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6592526	0.83[EUR][1000 genomes]
rs7114009	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7114376	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118982	0.84[AMR][1000 genomes]
rs7123985	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125598	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7129546	0.83[EUR][1000 genomes]
rs7129990	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7131397	0.83[AFR][1000 genomes]
rs73544767	0.83[EUR][1000 genomes]
rs7934218	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935948	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938391	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941359	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7944346	0.90[EUR][1000 genomes];1.00[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7927344	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73123800-73209600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:73141800-73231600	Weak transcription	Thymus	Thymus
3	chr11:73163800-73225600	Weak transcription	Fetal Stomach	stomach
4	chr11:73172800-73218800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:73182000-73230000	Weak transcription	Dnd41	blood
6	chr11:73199200-73211600	Weak transcription	Stomach Mucosa	stomach
7	chr11:73202400-73240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:73205000-73239600	Weak transcription	Primary B cells from cord blood	blood
9	chr11:73205200-73219600	Weak transcription	Brain Germinal Matrix	brain
10	chr11:73205400-73209400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:73205600-73209400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:73205600-73209800	Weak transcription	Aorta	Aorta
13	chr11:73205600-73236400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:73205800-73209000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:73205800-73209400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:73205800-73209400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:73205800-73209400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:73205800-73209400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:73205800-73209600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:73205800-73210200	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:73205800-73210600	Weak transcription	Brain Anterior Caudate	brain
22	chr11:73205800-73216600	Weak transcription	Primary T cells from cord blood	blood
23	chr11:73205800-73241400	Weak transcription	Pancreas	Pancrea
24	chr11:73206000-73209200	Weak transcription	Right Atrium	heart
25	chr11:73206000-73209400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:73206000-73209400	Weak transcription	Right Ventricle	heart
27	chr11:73206000-73209600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:73206000-73216800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:73206000-73222000	Weak transcription	Left Ventricle	heart
30	chr11:73206200-73209200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:73206200-73224600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:73206200-73232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:73206600-73217000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:73207200-73207600	Enhancers	GM12878-XiMat	blood
35	chr11:73207400-73207600	Enhancers	Monocytes-CD14+_RO01746	blood

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