Variant report

Variant	rs6925392
Chromosome Location	chr6:110414749-110414750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:110414174..110416824-chr6:110419840..110421905,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11153226	0.93[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.90[ASN][1000 genomes]
rs11751590	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11757055	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12110744	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12660119	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12660791	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12662013	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12665849	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12665858	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1462490	0.90[ASN][1000 genomes]
rs1462492	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1462493	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2002630	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4257894	0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.92[ASN][1000 genomes]
rs4299857	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4339500	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4509164	0.93[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.89[ASN][1000 genomes]
rs4945850	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.96[ASN][1000 genomes]
rs4945851	0.86[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.92[ASN][1000 genomes]
rs4947048	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4947051	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4947058	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56122480	0.96[ASN][1000 genomes]
rs56135788	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56287427	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57983455	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60495849	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61020234	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6568633	0.90[ASN][1000 genomes]
rs6568634	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs6912291	0.83[ASN][1000 genomes]
rs6913554	0.82[ASW][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6915379	0.98[ASN][1000 genomes]
rs6918148	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6926540	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6927667	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6927697	0.93[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.93[ASN][1000 genomes]
rs6927722	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6928684	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6938106	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6938139	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6938653	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs719849	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73533834	0.90[ASN][1000 genomes]
rs73535810	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73535817	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73535821	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73535837	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73535838	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73537927	0.90[ASN][1000 genomes]
rs73537938	0.90[ASN][1000 genomes]
rs73537949	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7744828	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7747842	0.86[ASN][1000 genomes]
rs9372247	0.86[ASN][1000 genomes]
rs9372248	0.87[ASN][1000 genomes]
rs9374156	0.90[ASN][1000 genomes]
rs9400359	0.90[ASN][1000 genomes]
rs9400360	0.90[ASN][1000 genomes]
rs9481047	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9481048	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9487318	1.00[JPT][hapmap]
rs9487319	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9487321	0.86[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1023185	chr6:110386197-110416868	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	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
4	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
5	esv2761056	chr6:110394513-110415428	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1017890	chr6:110394894-110416868	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1026085	chr6:110396676-110420721	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv604499	chr6:110401183-110420374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv2829867	chr6:110404180-110414749	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6925392	WASF1	cis	Artery Tibial	GTEx
rs6925392	WASF1	cis	Artery Aorta	GTEx
rs6925392	BEND3	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110397000-110415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:110402800-110419800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:110405400-110418000	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:110405600-110422800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:110405800-110417200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:110405800-110422800	Weak transcription	Ovary	ovary
7	chr6:110408800-110418400	Weak transcription	Fetal Stomach	stomach
8	chr6:110409400-110414800	Weak transcription	NHEK	skin
9	chr6:110410400-110422800	Weak transcription	Primary B cells from cord blood	blood
10	chr6:110410600-110416200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:110411200-110419800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:110411200-110422800	Weak transcription	NH-A	brain
13	chr6:110411600-110420000	Weak transcription	Fetal Brain Female	brain
14	chr6:110412200-110419800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:110412400-110416000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:110412400-110416800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:110412600-110416000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:110412600-110419800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:110413400-110415000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:110413400-110418200	Weak transcription	Fetal Kidney	kidney
21	chr6:110413800-110417600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:110414400-110421000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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