Variant report

Variant	rs632517
Chromosome Location	chr1:70543913-70543914
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10489927	0.89[AMR][1000 genomes]
rs10489928	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs10889864	1.00[LWK][hapmap]
rs12041857	1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs12562802	0.93[MEX][hapmap]
rs12565362	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs12566666	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs17131142	1.00[MKK][hapmap]
rs17131235	0.89[AMR][1000 genomes]
rs17131248	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs17131251	0.89[AMR][1000 genomes]
rs17507386	1.00[MKK][hapmap]
rs2034756	1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[AMR][1000 genomes]
rs2210545	0.92[MEX][hapmap];0.89[AMR][1000 genomes]
rs2274913	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs2297484	0.89[AMR][1000 genomes]
rs2297486	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs2478801	1.00[CEU][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34821575	0.87[AMR][1000 genomes]
rs35262515	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs3753817	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs3767206	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs3767207	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs3767208	0.89[AMR][1000 genomes]
rs3767214	1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs3920731	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs41488747	1.00[MEX][hapmap]
rs4650031	0.89[AMR][1000 genomes]
rs55727788	0.89[AMR][1000 genomes]
rs56902977	0.83[AMR][1000 genomes]
rs59234513	0.89[AMR][1000 genomes]
rs593467	0.83[CEU][hapmap]
rs60272091	0.89[AMR][1000 genomes]
rs628249	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs631167	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs650184	1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs655588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657728	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs668525	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6702168	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs716240	0.85[AMR][1000 genomes]
rs74085992	0.89[AMR][1000 genomes]
rs74085996	0.89[AMR][1000 genomes]
rs74085999	0.89[AMR][1000 genomes]
rs74088004	0.89[AMR][1000 genomes]
rs74088016	0.89[AMR][1000 genomes]
rs74088024	0.89[AMR][1000 genomes]
rs74088029	0.83[AMR][1000 genomes]
rs74088032	0.83[AMR][1000 genomes]
rs74088035	0.89[AMR][1000 genomes]
rs826900	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[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	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv461795	chr1:70475794-70551339	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546453	chr1:70475794-70551339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv461806	chr1:70494216-70566981	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv546454	chr1:70494216-70566981	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs632517	SFRS11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70505000-70549400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:70527600-70549200	Weak transcription	Fetal Brain Male	brain
3	chr1:70536800-70554000	Weak transcription	Fetal Brain Female	brain
4	chr1:70537200-70555800	Weak transcription	Brain Anterior Caudate	brain
5	chr1:70538400-70550000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:70538800-70555800	Weak transcription	NHDF-Ad	bronchial
7	chr1:70541400-70544000	Enhancers	Fetal Heart	heart
8	chr1:70541400-70544600	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:70542000-70555600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:70542200-70556000	Weak transcription	Brain Germinal Matrix	brain

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