Variant report

Variant	rs12290701
Chromosome Location	chr11:73271988-73271989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11235770	0.82[AMR][1000 genomes]
rs11235809	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820577	0.82[EUR][1000 genomes]
rs11822984	0.82[EUR][1000 genomes]
rs11823913	0.91[ASN][1000 genomes]
rs11828904	0.83[ASN][1000 genomes]
rs12276892	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12277924	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285885	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290623	0.82[AMR][1000 genomes]
rs12290785	0.82[EUR][1000 genomes]
rs17132115	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310374	0.82[EUR][1000 genomes]
rs56884659	0.82[EUR][1000 genomes]
rs58573166	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59806295	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60860405	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61516411	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7101561	0.80[EUR][1000 genomes]
rs7114376	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123985	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125598	0.91[ASN][1000 genomes]
rs7129990	0.82[AMR][1000 genomes]
rs73546720	0.82[EUR][1000 genomes]
rs73546735	0.82[EUR][1000 genomes]
rs73548680	0.82[EUR][1000 genomes]
rs73548688	0.82[EUR][1000 genomes]
rs7927344	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934218	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935948	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938391	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941359	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7944346	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950375	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12290701	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73243400-73279600	Weak transcription	Fetal Stomach	stomach
2	chr11:73249600-73276000	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:73250000-73307800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:73250200-73278800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:73250800-73282800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:73251000-73288800	Weak transcription	Thymus	Thymus
7	chr11:73253800-73307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:73258800-73278000	Weak transcription	Primary B cells from cord blood	blood
9	chr11:73262200-73281000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:73262600-73276800	Weak transcription	Brain Germinal Matrix	brain
11	chr11:73263200-73276000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:73263200-73306000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:73263800-73288800	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:73264200-73276800	Weak transcription	Hela-S3	cervix
15	chr11:73264600-73287000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:73264800-73276000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:73265400-73287200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:73266400-73274400	Weak transcription	Brain Substantia Nigra	brain
19	chr11:73266400-73280000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:73266600-73275000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:73266600-73307800	Weak transcription	Fetal Intestine Small	intestine
22	chr11:73266800-73275000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:73267000-73275000	Weak transcription	Brain Anterior Caudate	brain
24	chr11:73267200-73277000	Weak transcription	Primary T cells from cord blood	blood
25	chr11:73267400-73275000	Weak transcription	Psoas Muscle	Psoas
26	chr11:73267400-73281400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:73267400-73284800	Weak transcription	Right Atrium	heart
28	chr11:73268400-73281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:73269800-73279600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:73270600-73288000	Weak transcription	NHLF	lung
31	chr11:73271000-73272000	Enhancers	Ovary	ovary
32	chr11:73271400-73277400	Weak transcription	Left Ventricle	heart
33	chr11:73271400-73277600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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