Variant report

Variant	rs9897161
Chromosome Location	chr17:20034270-20034271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12051550	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13339684	0.88[EUR][1000 genomes]
rs16942325	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16959946	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16960660	0.89[EUR][1000 genomes]
rs16960678	0.89[EUR][1000 genomes]
rs16960700	0.92[ASN][1000 genomes]
rs16960717	0.88[AMR][1000 genomes]
rs16964352	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1971043	0.92[ASN][1000 genomes]
rs1971044	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28550747	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28567541	0.89[EUR][1000 genomes]
rs28622601	0.89[EUR][1000 genomes]
rs28644386	0.88[EUR][1000 genomes]
rs3764436	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5025290	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56138907	0.89[EUR][1000 genomes]
rs61141789	0.92[ASN][1000 genomes]
rs6587218	0.96[ASN][1000 genomes]
rs7210439	0.89[EUR][1000 genomes]
rs7213349	0.98[ASN][1000 genomes]
rs7213816	0.98[ASN][1000 genomes]
rs7215097	0.98[ASN][1000 genomes]
rs7215432	0.98[ASN][1000 genomes]
rs7225605	0.89[EUR][1000 genomes]
rs73299658	0.92[ASN][1000 genomes]
rs73981803	0.89[EUR][1000 genomes]
rs73981807	0.89[EUR][1000 genomes]
rs73981849	0.82[AMR][1000 genomes]
rs73984564	0.88[EUR][1000 genomes]
rs73984568	0.88[EUR][1000 genomes]
rs73984571	0.89[EUR][1000 genomes]
rs73984573	0.89[EUR][1000 genomes]
rs8077051	0.92[ASN][1000 genomes]
rs9889684	0.89[EUR][1000 genomes]
rs9895177	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9897168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899514	0.86[AMR][1000 genomes]
rs9901357	0.92[EUR][1000 genomes]
rs9901484	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9902683	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9908032	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9908418	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9909156	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9911605	0.98[ASN][1000 genomes]
rs9911879	0.89[EUR][1000 genomes]
rs9913018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9916729	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking 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	10 gene(s)	inside rSNPs	diseases
11	nsv833396	chr17:20029183-20150808	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9897161	USP32P3	cis	Nerve Tibial	GTEx
rs9897161	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20025400-20040400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:20025600-20034600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:20025800-20037600	Weak transcription	Ovary	ovary
4	chr17:20025800-20044400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:20026200-20040000	Weak transcription	Aorta	Aorta
6	chr17:20026200-20049800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr17:20029400-20042400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:20029600-20058800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:20029800-20040600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:20030200-20043800	Weak transcription	Adipose Nuclei	Adipose
11	chr17:20031600-20037000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr17:20031600-20040200	Weak transcription	Brain Angular Gyrus	brain
13	chr17:20031600-20052400	Weak transcription	Brain Anterior Caudate	brain
14	chr17:20031800-20036800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:20031800-20036800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr17:20031800-20052600	Weak transcription	Brain Hippocampus Middle	brain
17	chr17:20031800-20056400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr17:20032000-20058600	Weak transcription	A549	lung
19	chr17:20033200-20035000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
20	chr17:20033400-20034600	Strong transcription	Primary hematopoietic stem cells	blood
21	chr17:20033600-20035000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:20033600-20035000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:20033800-20034400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:20034200-20034400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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