Variant report

Variant	rs9901484
Chromosome Location	chr17:20132894-20132895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12051550	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12051844	0.86[ASN][1000 genomes]
rs13339684	0.88[EUR][1000 genomes]
rs16942325	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16959946	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16960660	0.89[EUR][1000 genomes]
rs16960678	0.89[EUR][1000 genomes]
rs16960715	0.82[ASN][1000 genomes]
rs16960717	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16960730	0.88[ASN][1000 genomes]
rs16960735	0.94[ASN][1000 genomes]
rs16964352	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1971044	0.82[AMR][1000 genomes]
rs28550747	0.90[AFR][1000 genomes];0.95[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	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5025290	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56138907	0.89[EUR][1000 genomes]
rs6587218	0.81[ASN][1000 genomes]
rs6587221	0.82[ASN][1000 genomes]
rs7210439	0.89[EUR][1000 genomes]
rs7211948	0.82[ASN][1000 genomes]
rs7213349	0.83[ASN][1000 genomes]
rs7213816	0.83[ASN][1000 genomes]
rs7215097	0.83[ASN][1000 genomes]
rs7215432	0.83[ASN][1000 genomes]
rs7218859	0.90[ASN][1000 genomes]
rs7225605	0.89[EUR][1000 genomes]
rs73301548	0.82[ASN][1000 genomes]
rs73981803	0.89[EUR][1000 genomes]
rs73981807	0.89[EUR][1000 genomes]
rs73981849	0.86[AMR][1000 genomes];0.90[ASN][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]
rs9889684	0.89[EUR][1000 genomes]
rs9895177	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9896190	0.82[ASN][1000 genomes]
rs9897161	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9897168	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9899514	0.82[AMR][1000 genomes]
rs9901357	0.92[EUR][1000 genomes]
rs9902683	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9905976	0.88[ASN][1000 genomes]
rs9908032	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9908418	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9909156	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9911605	0.83[ASN][1000 genomes]
rs9911879	0.89[EUR][1000 genomes]
rs9913018	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9916729	0.89[EUR][1000 genomes]
rs9941362	0.82[ASN][1000 genomes]
rs9941376	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
6	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
7	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
8	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
9	nsv428669	chr17:20071969-20245033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1064854	chr17:20086562-20225751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2761953	chr17:20086562-20225763	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1063833	chr17:20088333-20206601	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv574581	chr17:20088492-20699545	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers 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	53 gene(s)	inside rSNPs	diseases
14	nsv1065363	chr17:20118499-20162888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1059774	chr17:20118499-20163560	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9901484	USP32P3	cis	Nerve Tibial	GTEx
rs9901484	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20109600-20135200	Weak transcription	Gastric	stomach
2	chr17:20111600-20166000	Weak transcription	Right Ventricle	heart
3	chr17:20115400-20135000	Weak transcription	Fetal Intestine Small	intestine
4	chr17:20118600-20134200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:20125200-20144000	Weak transcription	Small Intestine	intestine
6	chr17:20126400-20134000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:20128800-20157000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:20129000-20134600	Weak transcription	Colonic Mucosa	Colon
9	chr17:20129000-20138600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr17:20129200-20133000	Weak transcription	Ovary	ovary
11	chr17:20129200-20135600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:20129200-20137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:20129200-20161600	Weak transcription	Fetal Brain Female	brain
14	chr17:20129600-20161600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr17:20130200-20133200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:20130400-20135400	Weak transcription	Pancreas	Pancrea
17	chr17:20130600-20134400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:20130600-20135000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr17:20130600-20135200	Weak transcription	Lung	lung
20	chr17:20130600-20135400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr17:20130600-20135400	Weak transcription	Brain Germinal Matrix	brain
22	chr17:20130600-20135400	Weak transcription	Esophagus	oesophagus
23	chr17:20130600-20135400	Weak transcription	Left Ventricle	heart
24	chr17:20130600-20135400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr17:20130600-20139000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr17:20130600-20139000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr17:20130600-20139200	Weak transcription	Fetal Muscle Leg	muscle
28	chr17:20130600-20139800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:20130600-20141600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:20130600-20161200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr17:20130600-20170000	Weak transcription	K562	blood
32	chr17:20130600-20170200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr17:20130800-20133000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr17:20130800-20134000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:20130800-20135200	Weak transcription	Fetal Stomach	stomach
36	chr17:20130800-20135600	Weak transcription	Primary T cells from cord blood	blood
37	chr17:20130800-20135800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr17:20130800-20135800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr17:20130800-20136400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr17:20130800-20136400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr17:20130800-20139800	Weak transcription	Colon Smooth Muscle	Colon
42	chr17:20130800-20140400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:20130800-20141800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:20130800-20142200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr17:20130800-20142200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr17:20131000-20133400	Strong transcription	Spleen	Spleen
47	chr17:20131000-20133800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr17:20131000-20135400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr17:20131000-20135600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr17:20131000-20135600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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