Variant report

Variant	rs9901357
Chromosome Location	chr17:20009042-20009043
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19913353..19915145-chr17:20008243..20011168,2	K562	blood:
2	chr17:20006703..20009085-chr17:20010910..20012831,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12051550	0.91[EUR][1000 genomes]
rs13339684	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16942325	0.89[EUR][1000 genomes]
rs16959946	0.89[EUR][1000 genomes]
rs16960660	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16960678	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16964352	0.84[EUR][1000 genomes]
rs28550747	0.89[EUR][1000 genomes]
rs28567541	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28622601	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28644386	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3764436	0.96[EUR][1000 genomes]
rs5025290	0.89[EUR][1000 genomes]
rs56138907	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210439	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7219770	0.91[ASN][1000 genomes]
rs7223910	0.91[ASN][1000 genomes]
rs7225605	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981803	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981807	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73984564	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73984568	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73984571	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73984573	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9889684	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9895177	0.89[EUR][1000 genomes]
rs9897161	0.92[EUR][1000 genomes]
rs9897168	0.92[EUR][1000 genomes]
rs9901484	0.92[EUR][1000 genomes]
rs9902683	0.96[EUR][1000 genomes]
rs9908032	0.94[EUR][1000 genomes]
rs9908418	0.89[EUR][1000 genomes]
rs9909156	0.90[EUR][1000 genomes]
rs9911879	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913018	0.92[EUR][1000 genomes]
rs9916729	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9901357	USP32P3	cis	Nerve Tibial	GTEx
rs9901357	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19999000-20032800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:19999400-20011800	Weak transcription	A549	lung
3	chr17:20002200-20018800	Weak transcription	Spleen	Spleen
4	chr17:20002200-20033400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr17:20002400-20013600	Weak transcription	Aorta	Aorta
6	chr17:20004000-20013600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr17:20007000-20013400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:20007000-20013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:20007200-20013600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:20007400-20013600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr17:20007400-20013600	Weak transcription	Ovary	ovary
12	chr17:20007400-20015000	Weak transcription	Adipose Nuclei	Adipose
13	chr17:20007400-20024200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:20007600-20013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:20007600-20013600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr17:20007600-20019800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr17:20007600-20020200	Weak transcription	Brain Angular Gyrus	brain
18	chr17:20007600-20024000	Weak transcription	Brain Substantia Nigra	brain
19	chr17:20007800-20012000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr17:20007800-20017800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:20007800-20020200	Weak transcription	Brain Anterior Caudate	brain
22	chr17:20007800-20024000	Weak transcription	Brain Hippocampus Middle	brain
23	chr17:20008400-20011800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr17:20008800-20009200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:20008800-20009200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:20008800-20009600	Enhancers	GM12878-XiMat	blood
27	chr17:20009000-20009200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:20009000-20009200	Enhancers	Skeletal Muscle Male	skeletal muscle

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