Variant report

Variant	rs38111
Chromosome Location	chr7:78249193-78249194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs161285	0.84[ASN][1000 genomes]
rs191181	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs319861	0.81[YRI][hapmap]
rs319862	0.81[YRI][hapmap]
rs319863	0.87[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs321975	0.81[JPT][hapmap]
rs38096	0.95[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes]
rs38098	0.92[GIH][hapmap]
rs38099	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs38100	0.90[JPT][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38102	0.83[ASW][hapmap];0.84[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs38103	0.89[ASW][hapmap];0.95[GIH][hapmap];0.85[YRI][hapmap]
rs38104	0.89[ASW][hapmap];0.95[GIH][hapmap];0.85[YRI][hapmap]
rs38105	1.00[ASW][hapmap];0.84[CEU][hapmap];0.80[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs38107	0.89[ASW][hapmap];0.95[GIH][hapmap];0.89[YRI][hapmap]
rs38108	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs38109	0.97[GIH][hapmap];0.92[YRI][hapmap]
rs38113	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs38114	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs38115	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs38116	0.88[MEX][hapmap]
rs38117	0.91[CEU][hapmap];0.84[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs38119	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38120	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	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
3	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs38111	YWHAG	cis	cerebellum	SCAN
rs38111	PTPN12	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78219000-78258600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:78236800-78256400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:78238400-78255800	Weak transcription	Brain Angular Gyrus	brain
4	chr7:78240400-78256400	Weak transcription	Fetal Brain Male	brain

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