Variant report

Variant	rs10252981
Chromosome Location	chr7:78349405-78349406
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10237271	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs10255125	0.93[CEU][hapmap];0.84[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10256096	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10267607	0.96[CEU][hapmap];0.94[CHB][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10274281	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs10274288	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1075221	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10953675	0.92[CEU][hapmap];0.89[CHB][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11768116	0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13234228	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13240156	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13242288	0.96[CEU][hapmap];0.88[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13246026	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1390824	1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1496779	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1496780	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17384271	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4370469	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4727750	0.89[ASN][1000 genomes]
rs6948326	0.96[CEU][hapmap];0.95[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9640732	0.83[CHB][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1019355	chr7:78319575-78399845	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78345200-78350200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:78346800-78352800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:78346800-78361400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:78349000-78352200	Enhancers	Fetal Heart	heart
5	chr7:78349200-78350000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:78349200-78350000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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