Variant report

Variant	rs8103168
Chromosome Location	chr19:36999787-36999788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17707033	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2891868	0.87[ASN][1000 genomes]
rs4806328	0.87[ASN][1000 genomes]
rs55743839	0.87[ASN][1000 genomes]
rs56054915	0.87[ASN][1000 genomes]
rs56075402	0.87[ASN][1000 genomes]
rs56183102	0.87[ASN][1000 genomes]
rs56246998	0.87[ASN][1000 genomes]
rs57126710	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6510549	0.87[ASN][1000 genomes]
rs7249099	0.87[ASN][1000 genomes]
rs7252262	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7259057	0.87[ASN][1000 genomes]
rs73032465	0.87[ASN][1000 genomes]
rs73032491	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73034106	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73049817	0.87[ASN][1000 genomes]
rs73049826	0.87[ASN][1000 genomes]
rs73049844	0.87[ASN][1000 genomes]
rs73049851	0.87[ASN][1000 genomes]
rs73049853	0.87[ASN][1000 genomes]
rs8100340	0.87[ASN][1000 genomes]
rs8102474	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8103917	0.87[ASN][1000 genomes]
rs8104087	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104893	0.87[ASN][1000 genomes]
rs8106144	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8108848	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8110140	0.87[ASN][1000 genomes]
rs8111192	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8103168	AC012309.5	cis	Esophagus Mucosa	GTEx
rs8103168	AC012309.5	cis	Thyroid	GTEx
rs8103168	ZNF260	Cis_1M	lymphoblastoid	RTeQTL
rs8103168	ZNF260	cis	Esophagus Mucosa	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36999200-37014400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:36999200-37018000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:36999600-37002600	Weak transcription	HSMM	muscle

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