Variant report

Variant	rs1822032
Chromosome Location	chr8:62328142-62328143
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10093364	0.82[CHB][hapmap]
rs10094365	0.82[CHB][hapmap]
rs10098539	0.83[CHB][hapmap];1.00[YRI][hapmap]
rs10098755	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs10098885	0.92[ASW][hapmap];0.81[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];1.00[YRI][hapmap]
rs10099169	0.80[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap]
rs10100364	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs10111649	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs10111651	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs10112069	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs10957192	0.84[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap]
rs12675558	0.83[CHB][hapmap];1.00[YRI][hapmap]
rs1371741	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs1371744	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16927237	0.83[CHB][hapmap]
rs16927280	0.85[AFR][1000 genomes]
rs16927291	0.86[CHD][hapmap]
rs16927299	0.83[CHB][hapmap]
rs17775880	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs1873888	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs1992331	0.83[CHB][hapmap]
rs1992332	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs1992333	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs2201261	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs2220766	0.92[ASW][hapmap];0.81[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];1.00[YRI][hapmap]
rs3864676	0.83[CHB][hapmap]
rs4147444	0.82[CHB][hapmap]
rs4147445	0.92[ASW][hapmap];0.81[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.80[GIH][hapmap];0.84[AFR][1000 genomes]
rs4147446	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs4737584	0.83[CHB][hapmap]
rs4737585	0.83[CHB][hapmap]
rs4738885	0.82[CHB][hapmap]
rs4738886	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs4738888	0.82[CHB][hapmap];0.88[YRI][hapmap]
rs6471947	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs6983659	0.92[ASW][hapmap];0.81[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes]
rs6994385	0.83[CHB][hapmap]
rs6994804	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs7012230	0.83[CHB][hapmap]
rs7386996	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap]
rs7820685	0.81[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap]
rs7836228	0.83[CHB][hapmap];0.86[CHD][hapmap]

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	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv831336	chr8:62188396-62364873	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv6223	chr8:62294904-62339988	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1822032	DPP7	trans	cerebellum	SCAN
rs1822032	EPHA8	trans	parietal	SCAN
rs1822032	CLVS1	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62310400-62368200	Weak transcription	Fetal Brain Female	brain
2	chr8:62326400-62332400	Enhancers	Adipose Nuclei	Adipose
3	chr8:62326600-62328400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:62326800-62328200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:62327400-62329200	Weak transcription	Brain Anterior Caudate	brain
6	chr8:62327600-62328200	Enhancers	Cortex derived primary cultured neurospheres	brain

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