Variant report

Variant	rs7291239
Chromosome Location	chr22:32539375-32539376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1056444	1.00[YRI][hapmap]
rs12484973	0.89[JPT][hapmap]
rs130262	0.84[CEU][hapmap];1.00[YRI][hapmap]
rs130266	0.92[ASW][hapmap];0.95[GIH][hapmap];0.81[LWK][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs130407	0.93[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs135021	0.84[CEU][hapmap];1.00[YRI][hapmap]
rs135023	0.92[ASW][hapmap];0.84[CEU][hapmap];0.91[GIH][hapmap];0.81[LWK][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs135110	0.92[ASW][hapmap];0.84[CEU][hapmap];0.86[CHB][hapmap];0.95[GIH][hapmap];0.81[LWK][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs135111	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs16989807	1.00[JPT][hapmap]
rs16989809	0.88[JPT][hapmap]
rs16989893	0.88[JPT][hapmap]
rs2019949	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap]
rs2246704	0.84[CEU][hapmap]
rs2413070	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2413073	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2858753	0.84[CEU][hapmap]
rs3888536	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4488763	0.88[JPT][hapmap]
rs4602316	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4821004	0.84[CEU][hapmap];0.82[GIH][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap]
rs4821014	1.00[YRI][hapmap]
rs5753843	1.00[YRI][hapmap]
rs5753852	0.81[CEU][hapmap]
rs5994466	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs5994468	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs5998196	0.81[CEU][hapmap]
rs5998233	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs5998237	0.85[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs5998253	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs5998254	0.80[ASN][1000 genomes]
rs62241567	0.82[ASN][1000 genomes]
rs738993	1.00[JPT][hapmap]
rs739009	1.00[YRI][hapmap]
rs8137665	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes]
rs8139657	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs93108	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs9606906	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes]
rs9609433	0.95[EUR][1000 genomes]
rs9609459	1.00[CHB][hapmap];0.89[JPT][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7291239	LARGE	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	chr22:32537000-32539400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:32537400-32539800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr22:32537400-32541400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr22:32537400-32541400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr22:32537800-32541400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr22:32537800-32541400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr22:32537800-32541400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr22:32537800-32541400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:32538000-32541400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:32538600-32540400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr22:32538800-32541400	Enhancers	Primary hematopoietic stem cells	blood
17	chr22:32539000-32540400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr22:32539000-32540400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr22:32539000-32540400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr22:32539000-32540400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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