Variant report

Variant	rs17175825
Chromosome Location	chr5:40942420-40942421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10046046	0.84[ASW][hapmap];1.00[CEU][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap]
rs10066341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072099	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10072214	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10472340	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12652909	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13354307	0.82[EUR][1000 genomes]
rs13355045	0.82[EUR][1000 genomes]
rs16870407	0.84[ASW][hapmap];1.00[CEU][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs16870434	0.84[ASW][hapmap];1.00[CEU][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2329431	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2455303	0.99[ASN][1000 genomes]
rs2455307	0.92[GIH][hapmap]
rs2455308	0.92[GIH][hapmap]
rs28718806	0.80[EUR][1000 genomes]
rs3792642	0.88[JPT][hapmap]
rs62357063	0.99[ASN][1000 genomes]
rs62358580	0.99[ASN][1000 genomes]
rs72748000	0.82[EUR][1000 genomes]
rs72749504	0.82[EUR][1000 genomes]
rs72749510	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72749526	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72749562	0.86[EUR][1000 genomes]
rs7716062	0.99[ASN][1000 genomes]
rs9292794	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9292798	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv880796	chr5:40934832-40985604	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv823056	chr5:40940585-40955442	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17175825	HEBP2	trans	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40931200-40992200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:40931800-40991000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:40933400-40956400	Weak transcription	Fetal Brain Male	brain
4	chr5:40937000-40959600	Weak transcription	Left Ventricle	heart
5	chr5:40938800-40943400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:40942000-40944000	Weak transcription	Fetal Lung	lung
7	chr5:40942400-40947600	Weak transcription	Ovary	ovary

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