Variant report

Variant	rs11743132
Chromosome Location	chr5:40808946-40808947
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10064650	1.00[ASN][1000 genomes]
rs11740266	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11743196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745121	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11746535	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748087	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11748743	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749180	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11749437	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11749955	1.00[ASN][1000 genomes]
rs12186450	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188129	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12188981	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12189463	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35999176	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62356519	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62357560	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62357568	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357569	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357570	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357571	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357574	0.84[AMR][1000 genomes]
rs62357600	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	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
4	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11743132	CARD6	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40807800-40809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:40808200-40809000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:40808200-40809000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:40808200-40809200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:40808200-40809200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:40808200-40809200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:40808200-40809200	Enhancers	A549	lung
8	chr5:40808200-40809200	Enhancers	K562	blood
9	chr5:40808200-40809200	Enhancers	NH-A	brain
10	chr5:40808200-40809200	Enhancers	NHLF	lung
11	chr5:40808200-40809200	Enhancers	Osteobl	bone
12	chr5:40808400-40809000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:40808400-40809000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:40808400-40809000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:40808400-40809000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:40808400-40809200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:40808400-40809200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:40808400-40809200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:40808400-40809200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:40808400-40809200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:40808400-40809200	Enhancers	NHDF-Ad	bronchial
22	chr5:40808400-40826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:40808600-40809200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:40808600-40814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:40808800-40825600	Weak transcription	HSMM	muscle

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