Variant report

Variant	rs4947048
Chromosome Location	chr6:110471195-110471196
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11153226	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11751590	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11757055	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12110744	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12660119	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12660791	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12662013	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12665849	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12665858	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1462490	0.84[ASN][1000 genomes]
rs1462492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462493	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2002630	0.93[ASN][1000 genomes]
rs4257894	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4299857	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4339500	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4509164	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4945850	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4945851	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4947051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4947058	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56122480	0.98[ASN][1000 genomes]
rs56135788	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56287427	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57983455	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60495849	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61020234	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6568633	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6913554	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6915379	0.96[ASN][1000 genomes]
rs6918148	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6925392	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6926540	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6927667	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927697	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6927722	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6928684	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6938106	0.93[ASN][1000 genomes]
rs6938139	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6938653	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs719849	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73533834	0.84[ASN][1000 genomes]
rs73535810	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73535817	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73535821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73535837	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73535838	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73537927	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73537938	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73537949	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7744828	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7747842	0.81[ASN][1000 genomes]
rs7766850	0.85[ASN][1000 genomes]
rs9372247	0.81[ASN][1000 genomes]
rs9372248	0.82[ASN][1000 genomes]
rs9374156	0.84[ASN][1000 genomes]
rs9400359	0.84[ASN][1000 genomes]
rs9400360	0.84[ASN][1000 genomes]
rs9481045	0.81[ASN][1000 genomes]
rs9481047	0.85[ASN][1000 genomes]
rs9481048	0.82[ASN][1000 genomes]
rs9487317	0.85[ASN][1000 genomes]
rs9487318	0.85[ASN][1000 genomes]
rs9487319	0.83[ASN][1000 genomes]
rs9487321	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886535	chr6:110377006-110551463	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats 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	3 gene(s)	inside rSNPs	diseases
2	esv2757188	chr6:110389926-110504680	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2759462	chr6:110389926-110504680	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1792799	chr6:110411065-110566597	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv886536	chr6:110426046-110502831	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv948824	chr6:110443685-110889332	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv3445149	chr6:110449308-110474569	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4947048	WASF1	cis	Muscle Skeletal	GTEx
rs4947048	WASF1	cis	Artery Tibial	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110444000-110483800	Weak transcription	Fetal Kidney	kidney
2	chr6:110445200-110482400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:110449200-110498600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:110460400-110472000	Weak transcription	Fetal Brain Male	brain
5	chr6:110460400-110485400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:110460600-110472000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:110460600-110474800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:110462000-110476400	Weak transcription	Fetal Brain Female	brain
9	chr6:110462200-110476400	Weak transcription	Hela-S3	cervix
10	chr6:110462200-110479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:110462200-110480200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:110462200-110490000	Weak transcription	Ovary	ovary
13	chr6:110462600-110498800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:110468800-110479600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:110469200-110479800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:110470000-110479800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:110470200-110471600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:110470200-110499400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:110470800-110471400	Weak transcription	Primary B cells from cord blood	blood
20	chr6:110471000-110471800	Enhancers	Monocytes-CD14+_RO01746	blood

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