Variant report

Variant	rs56165201
Chromosome Location	chr9:97119755-97119756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10115864	0.82[EUR][1000 genomes]
rs10283669	0.80[ASN][1000 genomes]
rs1061835	0.80[ASN][1000 genomes]
rs12341403	0.80[ASN][1000 genomes]
rs28567659	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28704121	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56404236	0.85[ASN][1000 genomes]
rs6479536	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7024607	0.85[ASN][1000 genomes]
rs7030326	0.80[ASN][1000 genomes]
rs7040774	0.85[ASN][1000 genomes]
rs7856786	0.80[ASN][1000 genomes]
rs7859955	0.80[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	nsv972422	chr9:97110562-97121990	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs56165201	HIATL1	cis	Esophagus Mucosa	GTEx
rs56165201	HIATL1	cis	lung	GTEx
rs56165201	HIATL1	cis	Nerve Tibial	GTEx
rs56165201	HIATL1	cis	Adipose Subcutaneous	GTEx
rs56165201	RP11-307E17.8	cis	Esophagus Muscularis	GTEx
rs56165201	HIATL1	cis	Skin Sun Exposed Lower leg	GTEx
rs56165201	HIATL1	Cis_1M	lymphoblastoid	RTeQTL
rs56165201	HIATL1	cis	Thyroid	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97118800-97119800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr9:97119400-97123600	Enhancers	Primary neutrophils fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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