Variant report

Variant	rs7165892
Chromosome Location	chr15:34304945-34304946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12050519	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12050691	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12050692	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1424399	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2018672	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2879446	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4542632	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs563895	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58113983	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58866635	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59031451	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60757549	0.83[AFR][1000 genomes]
rs60880416	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61153924	0.85[AFR][1000 genomes]
rs61196776	0.91[AMR][1000 genomes]
rs67436900	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7168444	0.99[EUR][1000 genomes]
rs7170890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7182790	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73387944	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7494836	0.83[AFR][1000 genomes]
rs991755	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs994849	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv903985	chr15:34279319-34370487	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7165892	CHRM5	cis	Nerve Tibial	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34265400-34311800	Weak transcription	Liver	Liver
2	chr15:34274400-34311000	Weak transcription	Primary B cells from cord blood	blood
3	chr15:34278200-34310000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:34281000-34306800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:34283000-34306000	Weak transcription	Ovary	ovary
6	chr15:34292000-34315000	Weak transcription	Aorta	Aorta
7	chr15:34294800-34315600	Weak transcription	Left Ventricle	heart
8	chr15:34297000-34306800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:34302200-34311200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr15:34303200-34305200	Enhancers	HSMM	muscle
11	chr15:34303200-34307400	Enhancers	HSMMtube	muscle
12	chr15:34304000-34305800	Weak transcription	Gastric	stomach
13	chr15:34304000-34306800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:34304200-34319800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr15:34304800-34305000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:34304800-34310400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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