Variant report

Variant	rs6493394
Chromosome Location	chr15:50326325-50326326
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11070741	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12591825	0.92[GIH][hapmap];0.82[TSI][hapmap]
rs12593937	0.82[GIH][hapmap]
rs2413992	0.82[GIH][hapmap]
rs2413997	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2414001	0.80[ASW][hapmap];0.89[GIH][hapmap];0.81[MEX][hapmap]
rs2414002	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2414004	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2414005	0.96[CEU][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2414006	0.96[CEU][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2414008	0.85[ASW][hapmap];0.96[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28463188	0.80[AFR][1000 genomes]
rs4343223	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4550392	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4583186	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4627270	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6493393	0.85[GIH][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7165307	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7176999	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7177104	0.81[ASW][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs7179614	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7182041	0.86[ASW][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap]
rs8027073	0.82[GIH][hapmap]
rs8028408	0.84[EUR][1000 genomes]
rs8041014	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9302151	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904207	chr15:50290295-50352945	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1530	chr15:50302524-50347616	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6493394	MFAP1	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50296800-50335200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr15:50297400-50334600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:50316600-50327400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:50321200-50343600	Weak transcription	Hela-S3	cervix
5	chr15:50323800-50331400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:50325000-50327600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr15:50325200-50334800	Strong transcription	Primary hematopoietic stem cells	blood
8	chr15:50325600-50326400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr15:50326000-50328000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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