Variant report

Variant	rs12153505
Chromosome Location	chr5:114806927-114806928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114802074..114804116-chr5:114806646..114808918,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10035674	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10037534	0.95[EUR][1000 genomes]
rs10478233	0.94[EUR][1000 genomes]
rs10478234	0.95[EUR][1000 genomes]
rs13189995	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17137847	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1833716	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269522	0.85[EUR][1000 genomes]
rs28650823	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900095	0.81[EUR][1000 genomes]
rs56402249	0.95[EUR][1000 genomes]
rs7735894	0.95[EUR][1000 genomes]

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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12153505	COMMD10	cis	parietal	SCAN
rs12153505	APP	trans	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114798000-114807200	Weak transcription	Psoas Muscle	Psoas
2	chr5:114798000-114807400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:114800000-114807200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:114800800-114807600	Weak transcription	Fetal Heart	heart
5	chr5:114801800-114807000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:114802200-114807200	Weak transcription	Gastric	stomach
7	chr5:114804000-114807400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:114804000-114807600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:114805400-114809800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:114805400-114810200	Enhancers	Fetal Muscle Leg	muscle
11	chr5:114805800-114807200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:114805800-114807400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:114805800-114810400	Enhancers	Fetal Brain Male	brain
14	chr5:114806000-114807200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:114806000-114807400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:114806600-114807000	Weak transcription	Left Ventricle	heart
17	chr5:114806800-114807400	Enhancers	Fetal Brain Female	brain
18	chr5:114806800-114807600	Enhancers	Right Ventricle	heart
19	chr5:114806800-114808400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:114806800-114808800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:114806800-114808800	Enhancers	Fetal Lung	lung
22	chr5:114806800-114808800	Enhancers	NHDF-Ad	bronchial
23	chr5:114806800-114809600	Enhancers	Brain Germinal Matrix	brain

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