Variant report

Variant	rs41288574
Chromosome Location	chr6:110481753-110481754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:110481649..110484031-chr6:110507011..110509592,2	K562	blood:
2	chr6:110474212..110476243-chr6:110478588..110481984,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12660108	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12662027	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12662099	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12662559	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12664024	0.87[EUR][1000 genomes]
rs12664697	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12665152	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12665178	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12665650	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1350943	0.87[EUR][1000 genomes]
rs1350944	0.87[EUR][1000 genomes]
rs1381688	0.87[EUR][1000 genomes]
rs2002631	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2361500	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2885293	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3806158	0.87[ASN][1000 genomes]
rs3828928	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41288576	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57771959	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58100980	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58965432	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59181827	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60105161	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61494781	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6904509	0.87[ASN][1000 genomes]
rs6918158	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6922245	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6922536	0.87[EUR][1000 genomes]
rs6926993	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6927464	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6935544	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6937364	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6940347	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6941101	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73765657	0.87[EUR][1000 genomes]
rs73765660	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73765665	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7752069	0.87[EUR][1000 genomes]
rs7770634	0.87[EUR][1000 genomes]
rs7771649	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7771909	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9374151	0.87[EUR][1000 genomes]
rs9374153	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9374154	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9374155	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9374157	0.87[EUR][1000 genomes]
rs9386877	0.87[EUR][1000 genomes]
rs9386879	0.87[EUR][1000 genomes]
rs9400361	0.87[EUR][1000 genomes]
rs9487320	0.81[ASN][1000 genomes]
rs9487324	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	esv33528	chr6:110476409-110482307	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs41288574	WASF1	cis	Nerve Tibial	GTEx
rs41288574	WASF1	cis	Artery Tibial	GTEx

Chromatin state (count:14 , 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	chr6:110460400-110485400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:110462200-110490000	Weak transcription	Ovary	ovary
6	chr6:110462600-110498800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:110470200-110499400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:110471600-110499600	Weak transcription	Primary B cells from cord blood	blood
9	chr6:110472400-110482400	Weak transcription	NHEK	skin
10	chr6:110478400-110491400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:110479800-110482000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:110480000-110484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:110480600-110483600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:110480800-110484800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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