Variant report

Variant	rs8024774
Chromosome Location	chr15:41792560-41792561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11631770	0.84[CEU][hapmap];0.80[CHB][hapmap];0.81[TSI][hapmap]
rs13379756	0.80[CHB][hapmap];0.83[TSI][hapmap]
rs1622914	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1655556	0.80[EUR][1000 genomes]
rs1655557	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16971767	0.84[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap]
rs16971798	0.84[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap]
rs1757455	0.82[EUR][1000 genomes]
rs1757456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1757462	0.97[ASN][1000 genomes]
rs1757463	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2015781	0.84[CEU][hapmap];0.80[CHB][hapmap]
rs2026946	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2777491	0.84[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap]
rs28526381	0.83[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap]
rs316605	0.84[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs316609	0.89[CEU][hapmap];0.80[CHB][hapmap]
rs316610	0.84[CEU][hapmap];0.86[TSI][hapmap]
rs316614	0.84[CEU][hapmap];0.80[CHB][hapmap];0.85[TSI][hapmap]
rs316617	0.86[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3743038	0.84[CEU][hapmap];0.83[TSI][hapmap]
rs7163788	0.84[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap]
rs7177641	0.84[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap]
rs7178634	0.84[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap]
rs7178777	0.84[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap]
rs7180418	0.84[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap]
rs8026197	0.84[CEU][hapmap];0.80[CHB][hapmap]
rs8032838	0.84[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap]
rs8036498	0.84[CEU][hapmap];0.80[CHB][hapmap];0.85[TSI][hapmap]
rs8041325	0.84[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap]
rs823716	0.84[CEU][hapmap]
rs919961	0.84[CEU][hapmap];0.80[CHB][hapmap];0.83[TSI][hapmap]
rs9302109	0.84[CEU][hapmap];0.80[CHB][hapmap];0.86[TSI][hapmap]

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	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv904110	chr15:41776692-41813279	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv904111	chr15:41777898-41805115	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv471241	chr15:41783814-41820200	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv569233	chr15:41784809-41805237	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv33378	chr15:41786505-41805760	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs8024774	BMF	cis	parietal	SCAN
rs8024774	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs8024774	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs8024774	RPAP1	cis	parietal	SCAN
rs8024774	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs8024774	NUSAP1	cis	parietal	SCAN
rs8024774	OIP5-AS1	cis	Artery Tibial	GTEx
rs8024774	NUSAP1	cis	cerebellum	SCAN
rs8024774	NDUFAF1	cis	cerebellum	SCAN
rs8024774	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs8024774	NDUFAF1	cis	parietal	SCAN
rs8024774	NDUFAF1	cis	multi-tissue	Pritchard
rs8024774	ZFP106	cis	parietal	SCAN
rs8024774	NDUFAF1	cis	Muscle Skeletal	GTEx
rs8024774	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs8024774	NDUFAF1	cis	lymphoblastoid	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41788800-41793400	Weak transcription	Pancreas	Pancrea
2	chr15:41788800-41793800	Weak transcription	Liver	Liver
3	chr15:41789400-41794000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:41789400-41794200	Weak transcription	Gastric	stomach
5	chr15:41789400-41802600	Weak transcription	K562	blood
6	chr15:41789600-41798200	Weak transcription	HepG2	liver
7	chr15:41791000-41793000	Strong transcription	Fetal Intestine Small	intestine
8	chr15:41792400-41792800	Weak transcription	Duodenum Mucosa	Duodenum

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