Variant report

Variant	rs9908032
Chromosome Location	chr17:20108184-20108185
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr17:20108040-20108467	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20057192..20060270-chr17:20108096..20110844,3	K562	blood:
2	chr17:20058693..20060833-chr17:20107962..20111201,3	MCF-7	breast:

Variant related genes	Relation type
SPECC1	TF binding region
ENSG00000128487	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12051550	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12051844	0.90[ASN][1000 genomes]
rs13339684	0.86[EUR][1000 genomes]
rs16942325	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16959946	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16960660	0.87[EUR][1000 genomes]
rs16960678	0.87[EUR][1000 genomes]
rs16960700	0.81[ASN][1000 genomes]
rs16960715	0.82[ASN][1000 genomes]
rs16960717	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16960730	0.88[ASN][1000 genomes]
rs16960735	0.86[ASN][1000 genomes]
rs16964352	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1971043	0.81[ASN][1000 genomes]
rs1971044	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28550747	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28567541	0.87[EUR][1000 genomes]
rs28622601	0.87[EUR][1000 genomes]
rs28644386	0.86[EUR][1000 genomes]
rs3764436	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5025290	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56138907	0.87[EUR][1000 genomes]
rs61141789	0.81[ASN][1000 genomes]
rs6587218	0.85[ASN][1000 genomes]
rs6587221	0.82[ASN][1000 genomes]
rs7210439	0.87[EUR][1000 genomes]
rs7211948	0.82[ASN][1000 genomes]
rs7213349	0.87[ASN][1000 genomes]
rs7213816	0.87[ASN][1000 genomes]
rs7215097	0.87[ASN][1000 genomes]
rs7215432	0.87[ASN][1000 genomes]
rs7218859	0.86[ASN][1000 genomes]
rs7225605	0.87[EUR][1000 genomes]
rs73299658	0.81[ASN][1000 genomes]
rs73301548	0.85[ASN][1000 genomes]
rs73981803	0.92[EUR][1000 genomes]
rs73981807	0.92[EUR][1000 genomes]
rs73981849	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73984564	0.86[EUR][1000 genomes]
rs73984568	0.86[EUR][1000 genomes]
rs73984571	0.87[EUR][1000 genomes]
rs73984573	0.87[EUR][1000 genomes]
rs8076627	0.82[ASN][1000 genomes]
rs8077051	0.81[ASN][1000 genomes]
rs9889684	0.92[EUR][1000 genomes]
rs9895177	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9896190	0.86[ASN][1000 genomes]
rs9897161	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9897168	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9899514	0.86[AMR][1000 genomes]
rs9901357	0.94[EUR][1000 genomes]
rs9901484	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9902683	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9905976	0.91[ASN][1000 genomes]
rs9908418	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9909156	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9911605	0.87[ASN][1000 genomes]
rs9911879	0.92[EUR][1000 genomes]
rs9913018	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9916729	0.87[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	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
6	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
7	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
8	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
9	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
10	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
11	nsv1057870	chr17:20079146-20121848	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9908032	USP32P3	cis	Nerve Tibial	GTEx
rs9908032	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20101600-20108200	Weak transcription	Aorta	Aorta
2	chr17:20102000-20118400	Weak transcription	Pancreas	Pancrea
3	chr17:20102400-20108200	Weak transcription	Adipose Nuclei	Adipose
4	chr17:20102400-20115200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:20102600-20108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:20103000-20109200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:20103600-20111600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:20104000-20113600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:20104000-20119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:20104200-20120800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:20105000-20119000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr17:20105800-20109000	Weak transcription	K562	blood
13	chr17:20105800-20109200	Weak transcription	HUVEC	blood vessel
14	chr17:20105800-20111400	Weak transcription	Fetal Brain Male	brain
15	chr17:20106200-20108800	Weak transcription	Fetal Muscle Leg	muscle
16	chr17:20106400-20109400	Weak transcription	Stomach Mucosa	stomach
17	chr17:20106600-20109200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:20106600-20119600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr17:20106800-20130200	Weak transcription	Fetal Stomach	stomach
20	chr17:20106800-20131400	Weak transcription	Fetal Intestine Large	intestine
21	chr17:20107000-20109600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:20107000-20110200	Weak transcription	NHDF-Ad	bronchial
23	chr17:20107000-20121200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr17:20107200-20108400	Strong transcription	Ovary	ovary
25	chr17:20107200-20108600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr17:20107200-20109000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:20107200-20109200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:20107400-20108600	Weak transcription	Primary T cells from cord blood	blood
29	chr17:20107400-20108600	Strong transcription	A549	lung
30	chr17:20107400-20108600	Weak transcription	HSMMtube	muscle
31	chr17:20107400-20108800	Weak transcription	NHEK	skin
32	chr17:20107400-20109000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:20107400-20109000	Weak transcription	Gastric	stomach
34	chr17:20107400-20109200	Weak transcription	NHLF	lung
35	chr17:20107400-20109400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:20107400-20118400	Weak transcription	Left Ventricle	heart
37	chr17:20107400-20119800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr17:20107600-20108200	Weak transcription	Brain Hippocampus Middle	brain
39	chr17:20107600-20108400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr17:20107600-20108600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:20107600-20108600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr17:20107600-20108600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:20107600-20108600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr17:20107600-20108600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:20107600-20108600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:20107600-20108600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr17:20107600-20108800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr17:20107600-20108800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:20107600-20108800	Weak transcription	Brain Substantia Nigra	brain
50	chr17:20107600-20109000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell

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