Variant report

Variant	rs11227630
Chromosome Location	chr11:66691193-66691194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1077256	0.86[ASN][1000 genomes]
rs10791894	0.86[ASN][1000 genomes]
rs10791896	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227624	0.86[ASN][1000 genomes]
rs11227625	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227628	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1901376	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930394	0.86[ASN][1000 genomes]
rs6591226	0.86[ASN][1000 genomes]
rs67156018	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7107498	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7119682	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs746018	0.85[ASN][1000 genomes]
rs746019	0.86[ASN][1000 genomes]
rs7935749	0.86[ASN][1000 genomes]
rs7936290	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7944999	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7952017	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs966021	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
5	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11227630	ACTN3	cis	Muscle Skeletal	GTEx
rs11227630	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs11227630	LRFN4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66674600-66696400	Weak transcription	NHEK	skin
2	chr11:66675000-66696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:66675600-66699800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:66676800-66696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:66677200-66692000	Weak transcription	Pancreas	Pancrea
6	chr11:66683200-66698200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:66683800-66692400	Weak transcription	Fetal Intestine Small	intestine
8	chr11:66685400-66702400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:66687400-66696400	Weak transcription	HSMMtube	muscle
10	chr11:66687800-66696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:66687800-66701400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:66688200-66693800	Weak transcription	Liver	Liver
13	chr11:66689000-66696200	Weak transcription	Osteobl	bone
14	chr11:66689200-66696400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:66689200-66719400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:66689400-66692200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:66689400-66701200	Weak transcription	Brain Anterior Caudate	brain
18	chr11:66689600-66692000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:66689600-66700400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:66689600-66707600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:66689800-66693000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:66689800-66700000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:66690400-66693200	Weak transcription	Hela-S3	cervix
24	chr11:66690400-66693400	Weak transcription	A549	lung
25	chr11:66690600-66696400	Weak transcription	K562	blood

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