Variant report

Variant	rs349077
Chromosome Location	chr11:84838195-84838196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10501585	0.85[CEU][hapmap]
rs10501590	0.81[CHB][hapmap]
rs10792810	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs11600088	0.92[CEU][hapmap]
rs11605620	0.83[GIH][hapmap];0.91[JPT][hapmap]
rs1400630	0.81[CHB][hapmap]
rs1517308	0.83[JPT][hapmap]
rs1517310	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs1532312	0.86[CHD][hapmap]
rs1783749	0.92[CEU][hapmap];0.94[GIH][hapmap];0.81[EUR][1000 genomes]
rs180953	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs180954	0.92[CEU][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];0.82[EUR][1000 genomes]
rs2000962	0.85[CHB][hapmap]
rs2203702	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs2449987	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs349059	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs349061	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs349064	0.92[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs349067	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs349074	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs349075	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs349079	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.84[EUR][1000 genomes]
rs471786	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs472375	0.86[CEU][hapmap];0.87[JPT][hapmap]
rs472406	1.00[CEU][hapmap];0.94[GIH][hapmap];0.87[JPT][hapmap]
rs472630	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs4944512	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs509179	1.00[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs552017	0.83[JPT][hapmap]
rs573963	0.86[CEU][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap]
rs576449	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs580188	0.82[JPT][hapmap]
rs582652	0.85[CEU][hapmap];0.86[GIH][hapmap]
rs596423	0.85[CEU][hapmap];0.83[GIH][hapmap]
rs601857	0.81[CHB][hapmap]
rs612389	0.86[CEU][hapmap];0.91[JPT][hapmap]
rs623403	0.84[EUR][1000 genomes]
rs624493	0.86[CEU][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap]
rs651536	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs659414	0.93[CEU][hapmap]
rs660451	0.85[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs660860	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs664417	1.00[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs678796	0.86[CEU][hapmap]
rs7931733	0.81[JPT][hapmap]
rs7935720	0.81[CHB][hapmap]
rs938727	0.85[CHB][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	nsv1040393	chr11:84708402-84866594	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv527535	chr11:84724795-84895033	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv528491	chr11:84724795-84895033	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1044370	chr11:84748993-85293233	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs349077	TMEM126B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84829600-84843600	Weak transcription	Brain Angular Gyrus	brain
2	chr11:84830400-84838400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:84835800-84841400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:84837600-84838200	Enhancers	GM12878-XiMat	blood

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