Variant report

Variant	rs9609441
Chromosome Location	chr22:32538875-32538876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs130256	0.87[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap]
rs130257	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs130264	0.87[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap]
rs130405	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17683807	0.80[MEX][hapmap]
rs17746358	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2413069	0.88[CEU][hapmap];0.97[EUR][1000 genomes]
rs5753861	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6518758	0.87[CEU][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap]
rs738181	0.87[CEU][hapmap];0.90[MEX][hapmap]
rs8141732	0.88[CEU][hapmap];0.87[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs933226	0.87[CEU][hapmap]
rs9606893	0.87[CEU][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap]
rs9606904	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9606905	0.82[CEU][hapmap];0.81[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs9606907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9606908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9609396	0.90[MEX][hapmap]
rs9609409	0.87[CEU][hapmap]
rs9609427	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9609429	0.80[MEX][hapmap]
rs9609432	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9609443	0.89[EUR][1000 genomes]
rs9621386	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9621390	0.83[ASN][1000 genomes]
rs9621391	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9609441	TUG1	cis	cerebellum	SCAN
rs9609441	ZNF292	trans	cerebellum	SCAN
rs9609441	CCDC117	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32534600-32540400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr22:32534600-32540800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr22:32534800-32540400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr22:32536600-32541600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr22:32536800-32540000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr22:32537000-32539000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr22:32537000-32539400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr22:32537400-32539800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr22:32537400-32541400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr22:32537400-32541400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr22:32537800-32541400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr22:32537800-32541400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:32537800-32541400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr22:32537800-32541400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:32538000-32539000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr22:32538000-32539000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr22:32538000-32541400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:32538400-32539000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr22:32538600-32540400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr22:32538800-32541400	Enhancers	Primary hematopoietic stem cells	blood

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