Variant report

Variant	rs638324
Chromosome Location	chr10:27730261-27730262
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11015783	0.83[ASN][1000 genomes]
rs11814298	1.00[JPT][hapmap]
rs12413104	0.83[ASN][1000 genomes]
rs12414736	0.83[ASN][1000 genomes]
rs17681969	0.83[ASN][1000 genomes]
rs17749271	0.83[ASN][1000 genomes]
rs2020155	0.83[ASN][1000 genomes]
rs2642274	1.00[JPT][hapmap]
rs2992007	1.00[JPT][hapmap]
rs34354872	0.83[ASN][1000 genomes]
rs34467586	0.83[ASN][1000 genomes]
rs34773871	0.83[ASN][1000 genomes]
rs35673366	0.83[ASN][1000 genomes]
rs3847381	0.83[ASN][1000 genomes]
rs3904627	0.83[ASN][1000 genomes]
rs56108042	0.83[ASN][1000 genomes]
rs610451	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs616550	1.00[ASN][1000 genomes]
rs620664	1.00[ASN][1000 genomes]
rs643005	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67199203	0.83[ASN][1000 genomes]
rs68016309	0.83[ASN][1000 genomes]
rs7067807	0.83[ASN][1000 genomes]
rs7069133	0.83[ASN][1000 genomes]
rs7095624	0.83[ASN][1000 genomes]
rs765700	0.83[ASN][1000 genomes]
rs9804355	1.00[JPT][hapmap]

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	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1045257	chr10:27572440-27926946	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv430148	chr10:27600380-27734720	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv430149	chr10:27602959-27734720	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv550277	chr10:27648069-27730261	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1053952	chr10:27659365-27915029	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	esv2750890	chr10:27669479-27774501	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs638324	PTCHD3	cis	Adipose Subcutaneous	GTEx
rs638324	ZEB1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27730000-27734800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:27730200-27735200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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