Variant report

Variant	rs10027498
Chromosome Location	chr4:120311987-120311988
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10017271	0.83[AMR][1000 genomes]
rs10017371	0.80[AMR][1000 genomes]
rs10024844	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10025054	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10026436	0.80[AMR][1000 genomes]
rs10028423	0.91[AMR][1000 genomes]
rs10028669	0.81[AMR][1000 genomes]
rs11098512	0.86[AMR][1000 genomes]
rs11098513	0.83[AMR][1000 genomes]
rs11098514	0.83[AMR][1000 genomes]
rs1112817	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11729991	0.80[AMR][1000 genomes]
rs12504149	0.81[AMR][1000 genomes]
rs12508173	0.81[AMR][1000 genomes]
rs12509234	0.89[AMR][1000 genomes]
rs12511625	0.87[AMR][1000 genomes]
rs12512118	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12512154	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13104396	0.80[AMR][1000 genomes]
rs13151285	0.83[AMR][1000 genomes]
rs28491261	0.91[AMR][1000 genomes]
rs28549914	0.85[AMR][1000 genomes]
rs28572238	0.83[AMR][1000 genomes]
rs28714195	0.83[AMR][1000 genomes]
rs28857482	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4296662	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4309825	0.83[AMR][1000 genomes]
rs4345162	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4463052	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4560394	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4604043	0.83[AMR][1000 genomes]
rs59394118	0.81[AMR][1000 genomes]
rs59866101	0.81[AMR][1000 genomes]
rs6820376	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6832410	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6838617	0.83[AMR][1000 genomes]
rs6848580	0.80[AMR][1000 genomes]
rs72918577	0.80[AMR][1000 genomes]
rs7437420	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9996417	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv879841	chr4:120244085-120388406	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2538163	chr4:120252854-120388678	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv980253	chr4:120298506-120312899	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs10027498	RP11-33B1.1	cis	Whole Blood	GTEx
rs10027498	RP11-33B1.1	cis	Thyroid	GTEx
rs10027498	RP11-33B1.4	cis	Whole Blood	GTEx
rs10027498	RP11-33B1.1	cis	lung	GTEx
rs10027498	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_1M	lymphoblastoid	RTeQTL
rs10027498	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs10027498	RP11-33B1.1	cis	Stomach	GTEx
rs10027498	RP11-33B1.1	cis	Nerve Tibial	GTEx
rs10027498	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs10027498	RP11-33B1.1	cis	Heart Left Ventricle	GTEx
rs10027498	RP11-384K6.6	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120311600-120318400	Weak transcription	Pancreas	Pancrea

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