Variant report

Variant	rs3118790
Chromosome Location	chr9:97162066-97162067
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10993177	0.80[ASN][1000 genomes]
rs10993182	0.94[ASN][1000 genomes]
rs10993186	0.94[ASN][1000 genomes]
rs10993188	0.94[ASN][1000 genomes]
rs11525963	0.94[ASN][1000 genomes]
rs1752784	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2104642	0.90[ASN][1000 genomes]
rs2486620	0.82[ASN][1000 genomes]
rs2769805	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2769813	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2809679	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2809768	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2809774	0.84[EUR][1000 genomes]
rs2993948	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4744338	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60964095	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409544	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3118790	HIATL1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97138200-97162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:97138800-97168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr9:97148800-97165400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr9:97150000-97166200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:97151400-97175600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr9:97153000-97164000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:97153800-97182200	Weak transcription	NHEK	skin
8	chr9:97157000-97166400	Weak transcription	A549	lung
9	chr9:97157600-97165600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:97158000-97203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:97160200-97171600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr9:97160200-97182400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:97160200-97183400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr9:97160400-97203600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr9:97160600-97170400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr9:97160800-97177000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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