Variant report

Variant	rs1551275
Chromosome Location	chr7:47891139-47891140
allele	A/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:27)

rs_ID	r²[population]
rs10245949	0.89[CEU][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes]
rs10280228	0.89[YRI][hapmap]
rs1074780	0.80[CHB][hapmap]
rs12670579	0.89[CEU][hapmap]
rs12673502	0.81[JPT][hapmap]
rs13228166	1.00[CHB][hapmap];0.83[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13237611	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17710832	0.89[CEU][hapmap]
rs1980279	0.89[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2123608	0.92[CEU][hapmap]
rs2123609	0.81[JPT][hapmap]
rs2177164	0.89[CEU][hapmap]
rs3757379	0.89[CEU][hapmap]
rs3800568	0.89[CEU][hapmap];0.91[MEX][hapmap]
rs4543454	0.89[CEU][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes]
rs4724647	0.80[CHB][hapmap]
rs6463451	0.86[CEU][hapmap]
rs6947216	0.89[CEU][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap]
rs6960513	0.96[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6967514	0.94[ASW][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.98[LWK][hapmap];0.97[MKK][hapmap];0.84[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6968437	0.89[CEU][hapmap]
rs6975745	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7783295	0.89[CEU][hapmap];0.91[MEX][hapmap]
rs7783894	0.89[CEU][hapmap]
rs876467	0.96[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9639016	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9639987	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1551275	UPP1	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47855800-47902400	Weak transcription	Adipose Nuclei	Adipose
2	chr7:47886200-47911000	Weak transcription	Psoas Muscle	Psoas
3	chr7:47886400-47892000	Weak transcription	Left Ventricle	heart
4	chr7:47886400-47905600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:47886800-47916000	Weak transcription	Right Ventricle	heart
6	chr7:47887000-47902400	Weak transcription	Lung	lung

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