Variant report

Variant	rs4310638
Chromosome Location	chr11:84055553-84055554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10501559	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10792755	0.95[CEU][hapmap]
rs10898232	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1559854	0.95[GIH][hapmap];0.84[TSI][hapmap]
rs17508652	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[ASN][1000 genomes]
rs2016830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs3906479	0.80[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3914464	0.95[CEU][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs4636699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943893	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs4944487	0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs500750	0.88[CHB][hapmap];0.88[CHD][hapmap];0.83[ASN][1000 genomes]
rs504196	0.95[CHD][hapmap]
rs542988	0.88[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs606277	0.81[ASN][1000 genomes]
rs61897664	0.90[ASN][1000 genomes]
rs61897669	0.83[EUR][1000 genomes]
rs61897674	0.88[ASN][1000 genomes]
rs6592176	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs6592177	0.85[GIH][hapmap];0.81[TSI][hapmap]
rs684067	0.89[CHB][hapmap];0.95[CHD][hapmap];0.82[ASN][1000 genomes]
rs7108323	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[EUR][1000 genomes]
rs7115400	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7117729	0.82[CEU][hapmap]
rs7118287	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs7121832	0.82[CEU][hapmap]
rs7124614	1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[EUR][1000 genomes]
rs7127845	0.95[CHD][hapmap]
rs7128063	0.80[CEU][hapmap];0.83[GIH][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs7128524	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs7928824	0.83[EUR][1000 genomes]
rs7942296	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap]
rs7947614	0.81[CEU][hapmap];0.86[GIH][hapmap]

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	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1038641	chr11:83996453-84334045	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541103	chr11:83996453-84334045	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1049696	chr11:84039547-84116297	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4310638	TMEM126B	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84054200-84056000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:84055400-84055600	Enhancers	Brain Cingulate Gyrus	brain

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