Variant report

Variant	rs9632709
Chromosome Location	chr7:87719088-87719089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10085757	0.84[EUR][1000 genomes]
rs10227241	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10229877	0.88[CEU][hapmap];0.86[CHB][hapmap]
rs10234048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10952910	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10952911	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10952913	0.89[CEU][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap]
rs10952914	0.85[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.83[EUR][1000 genomes]
rs11768853	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11770825	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12535312	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12535365	0.87[EUR][1000 genomes]
rs12537586	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670301	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13245213	0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2008834	0.88[CEU][hapmap]
rs2008840	0.86[CHB][hapmap]
rs2097918	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237540	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237541	0.89[CEU][hapmap];0.80[CHD][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs2282955	0.82[CEU][hapmap]
rs2282956	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282957	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299198	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299199	0.85[CEU][hapmap];0.86[CHB][hapmap];0.88[MEX][hapmap]
rs2299200	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap];0.94[ASN][1000 genomes]
rs2301998	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3753103	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3753106	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4442059	0.81[CEU][hapmap]
rs4727151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727152	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4728731	0.82[CEU][hapmap]
rs61598739	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62486408	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6951172	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6955696	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6957754	0.81[EUR][1000 genomes]
rs6958024	0.82[CEU][hapmap]
rs6964103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968026	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971348	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs726328	0.85[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7777040	0.82[CEU][hapmap]
rs7792853	0.81[EUR][1000 genomes]
rs7793051	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7793308	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7799148	0.82[CEU][hapmap]
rs9641023	0.85[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9691240	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9632709	ADAM22	cis	Muscle Skeletal	GTEx
rs9632709	SNORD61	trans	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87717800-87725400	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:87718000-87719200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:87718200-87719400	Enhancers	Brain Substantia Nigra	brain
4	chr7:87718200-87719400	Enhancers	Fetal Brain Female	brain
5	chr7:87718200-87720400	Enhancers	Brain Anterior Caudate	brain
6	chr7:87718600-87720000	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:87718600-87720000	Enhancers	Dnd41	blood
8	chr7:87718600-87722200	Enhancers	Fetal Lung	lung
9	chr7:87718800-87719200	Enhancers	Brain Germinal Matrix	brain
10	chr7:87718800-87719400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:87718800-87719400	Enhancers	GM12878-XiMat	blood
12	chr7:87718800-87719600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:87718800-87719600	Enhancers	Brain Angular Gyrus	brain
14	chr7:87718800-87719600	Enhancers	Fetal Brain Male	brain
15	chr7:87718800-87720000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:87719000-87719200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:87719000-87719400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:87719000-87719800	Enhancers	Brain Hippocampus Middle	brain
19	chr7:87719000-87720000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:87719000-87720400	Enhancers	Brain Cingulate Gyrus	brain

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