Variant report

Variant	rs6493767
Chromosome Location	chr15:55457825-55457826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55456344..55458514-chr15:55459219..55462233,3	K562	blood:
2	chr15:55456931..55459282-chr15:55487662..55489408,2	K562	blood:
3	chr15:55455906..55459673-chr15:55485986..55489439,4	K562	blood:

Variant related genes	Relation type
ENSG00000137876	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1050931	0.81[CHB][hapmap]
rs10518801	0.95[ASN][1000 genomes]
rs1061823	0.81[CHB][hapmap]
rs1061824	0.81[CHB][hapmap]
rs1061870	0.81[CHB][hapmap]
rs1061873	0.81[CHB][hapmap]
rs11071172	0.96[ASN][1000 genomes]
rs11071173	0.95[ASN][1000 genomes]
rs12385965	0.88[CEU][hapmap]
rs16976036	0.88[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap]
rs16976039	0.88[CEU][hapmap];0.81[CHB][hapmap]
rs16976149	0.81[CHB][hapmap]
rs28524517	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28589384	0.81[CHB][hapmap]
rs28670780	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2899580	0.81[CHB][hapmap]
rs2899582	0.81[CHB][hapmap]
rs3179664	0.81[CHB][hapmap]
rs3759861	0.87[CHB][hapmap]
rs3759862	0.87[CHB][hapmap]
rs3809539	0.81[CHB][hapmap]
rs3809540	0.87[CHB][hapmap]
rs4774750	0.96[ASN][1000 genomes]
rs4774751	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs559343	0.85[EUR][1000 genomes]
rs6493748	0.86[EUR][1000 genomes]
rs6493768	0.87[CHB][hapmap]
rs692886	0.85[EUR][1000 genomes]
rs7168057	0.96[ASN][1000 genomes]
rs7168472	0.87[CHB][hapmap]
rs7169407	0.96[ASN][1000 genomes]
rs7172575	0.95[ASN][1000 genomes]
rs8027098	0.81[CHB][hapmap]
rs8031949	0.81[CHB][hapmap]
rs8034402	0.87[CHB][hapmap];0.87[GIH][hapmap]
rs8034882	0.87[CHB][hapmap]
rs8035625	0.87[CHB][hapmap];0.87[GIH][hapmap]
rs8043029	0.87[CHB][hapmap]
rs9300	0.87[CHB][hapmap]

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	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv457156	chr15:55400649-55466155	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv569521	chr15:55400649-55466155	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6493767	RSL24D1	cis	cerebellum	SCAN
rs6493767	RAB27A	cis	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55455600-55469600	Weak transcription	Aorta	Aorta
2	chr15:55455800-55487200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:55456400-55462000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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