Variant report

Variant	rs6964548
Chromosome Location	chr7:150312916-150312917
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1009861	0.92[GIH][hapmap]
rs12667452	0.81[ASN][1000 genomes]
rs12667517	0.81[ASN][1000 genomes]
rs12667555	0.80[ASN][1000 genomes]
rs12668363	0.85[AMR][1000 genomes]
rs12669775	0.81[ASN][1000 genomes]
rs12669961	1.00[CHB][hapmap];0.92[GIH][hapmap]
rs12671748	0.81[ASN][1000 genomes]
rs12673369	0.80[ASN][1000 genomes]
rs12673373	0.80[ASN][1000 genomes]
rs35279979	0.80[ASN][1000 genomes]
rs3735083	0.93[ASN][1000 genomes]
rs56211450	0.81[ASN][1000 genomes]
rs60035597	0.81[ASN][1000 genomes]
rs6464084	0.92[GIH][hapmap]
rs6944535	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6945074	1.00[ASN][1000 genomes]
rs6967987	0.80[ASN][1000 genomes]
rs6977469	0.85[AMR][1000 genomes]
rs73464673	0.81[ASN][1000 genomes]
rs73727350	0.81[ASN][1000 genomes]
rs73727354	0.81[ASN][1000 genomes]
rs7785484	0.81[ASN][1000 genomes]
rs7789840	0.81[ASN][1000 genomes]
rs7804508	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3388935	chr7:150301204-150374532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6964548	PRKAG2	cis	lymphoblastoid	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150300600-150316800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:150309000-150313000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:150311400-150313400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr7:150312000-150314800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr7:150312200-150317000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:150312400-150313200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:150312400-150317000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:150312400-150321800	Weak transcription	Dnd41	blood
9	chr7:150312600-150317600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:150312600-150317600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:150312800-150313200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:150312800-150314400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:150312800-150317200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:150312800-150323000	Weak transcription	Fetal Thymus	thymus

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