Variant report

Variant	rs11130196
Chromosome Location	chr3:49490149-49490150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1050088	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10640	0.82[ASN][1000 genomes]
rs10865955	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11130192	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11130193	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11130194	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11130199	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11130202	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11130206	0.81[EUR][1000 genomes]
rs11706370	0.82[ASN][1000 genomes]
rs11711485	0.90[ASN][1000 genomes]
rs11715915	0.82[ASN][1000 genomes]
rs11720264	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11922013	0.82[ASN][1000 genomes]
rs12488065	0.86[EUR][1000 genomes]
rs12489092	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13079643	0.90[ASN][1000 genomes]
rs13096760	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1464566	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1464567	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1464568	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1568661	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1568662	0.89[EUR][1000 genomes]
rs17595772	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17650792	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2117939	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2312461	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2878298	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34937635	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35115732	0.90[ASN][1000 genomes]
rs35701831	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3870337	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3870338	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3877784	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3924462	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3924463	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4241406	0.84[EUR][1000 genomes]
rs4241408	0.89[EUR][1000 genomes]
rs4459909	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4563439	0.81[EUR][1000 genomes]
rs4855836	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4855839	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4855842	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4855843	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4855855	0.84[EUR][1000 genomes]
rs4855859	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4855861	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4855864	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4855866	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4855873	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4855877	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4955412	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55957735	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59152804	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62259939	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62259942	0.85[AMR][1000 genomes]
rs62261185	0.88[EUR][1000 genomes]
rs6446272	0.82[ASN][1000 genomes]
rs6446274	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6446277	0.90[ASN][1000 genomes]
rs67216675	0.90[ASN][1000 genomes]
rs6773518	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6779524	0.82[ASN][1000 genomes]
rs6784820	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6792911	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6797765	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6997	0.82[ASN][1000 genomes]
rs71324962	0.90[ASN][1000 genomes]
rs7371895	0.90[EUR][1000 genomes]
rs7373849	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7621003	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7631908	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7637665	0.84[EUR][1000 genomes]
rs7637999	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7643586	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7643845	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7645445	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7646366	0.90[ASN][1000 genomes]
rs885592	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9814873	0.80[ASN][1000 genomes]
rs9841110	0.90[ASN][1000 genomes]
rs9871380	0.82[ASN][1000 genomes]
rs9878943	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs11130196	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs11130196	WDR6	cis	Artery Tibial	GTEx
rs11130196	WDR6	cis	Muscle Skeletal	GTEx
rs11130196	WDR6	cis	Whole Blood	GTEx
rs11130196	WDR6	cis	lung	GTEx
rs11130196	WDR6	cis	Adipose Subcutaneous	GTEx
rs11130196	AMT	cis	Thyroid	GTEx
rs11130196	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs11130196	WDR6	cis	Nerve Tibial	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49481800-49492400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:49482000-49498200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:49484600-49492400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:49486600-49498600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:49486800-49490200	Weak transcription	Stomach Mucosa	stomach
6	chr3:49486800-49490600	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:49486800-49491800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:49486800-49491800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:49486800-49492000	Weak transcription	Fetal Kidney	kidney
10	chr3:49486800-49492000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:49486800-49492200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:49486800-49492400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:49487000-49491200	Weak transcription	Hela-S3	cervix
14	chr3:49487000-49491400	Weak transcription	HepG2	liver
15	chr3:49487000-49491800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:49487000-49492200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:49487000-49492200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:49487000-49492400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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