Variant report

Variant	rs12552777
Chromosome Location	chr9:97152451-97152452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10993189	0.82[AMR][1000 genomes]
rs60125875	0.81[AMR][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	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv982324	chr9:97139062-97200156	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12552777	HIATL1	Cis_1M	lymphoblastoid	RTeQTL
rs12552777	RP11-307E17.8	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97137800-97153000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr9:97138200-97162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:97138400-97152800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr9:97138800-97152800	Weak transcription	Hela-S3	cervix
5	chr9:97138800-97168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:97139000-97159600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:97147000-97159600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr9:97148600-97159600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr9:97148800-97165400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr9:97149000-97159600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr9:97149800-97153000	Weak transcription	Fetal Heart	heart
12	chr9:97150000-97159600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:97150000-97166200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:97150200-97160000	Weak transcription	K562	blood
15	chr9:97150800-97152800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:97150800-97159600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr9:97151400-97175600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr9:97152400-97152800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:97152400-97152800	Enhancers	NHEK	skin
20	chr9:97152400-97153200	Enhancers	GM12878-XiMat	blood

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