Variant report

Variant	rs73309111
Chromosome Location	chr17:20210616-20210617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10491107	0.86[ASN][1000 genomes]
rs11204300	0.88[ASN][1000 genomes]
rs11653630	0.88[ASN][1000 genomes]
rs11653869	0.88[ASN][1000 genomes]
rs11654942	0.82[ASN][1000 genomes]
rs11657161	0.89[ASN][1000 genomes]
rs11658116	0.90[ASN][1000 genomes]
rs11868429	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11869258	0.95[ASN][1000 genomes]
rs12051844	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12051865	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12603372	0.89[ASN][1000 genomes]
rs12938355	0.88[ASN][1000 genomes]
rs12942627	0.85[ASN][1000 genomes]
rs12949481	0.88[ASN][1000 genomes]
rs12950564	0.86[ASN][1000 genomes]
rs1373146	0.95[ASN][1000 genomes]
rs16960700	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16960715	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16960717	0.96[EUR][1000 genomes]
rs16960730	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16960735	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1971043	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1971044	0.95[EUR][1000 genomes]
rs1992561	0.95[ASN][1000 genomes]
rs2158472	0.86[ASN][1000 genomes]
rs2526465	0.85[ASN][1000 genomes]
rs2526466	0.85[ASN][1000 genomes]
rs2703781	0.83[ASN][1000 genomes]
rs2703786	0.85[ASN][1000 genomes]
rs2703788	0.85[ASN][1000 genomes]
rs3751979	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3850779	0.86[ASN][1000 genomes]
rs3850780	0.89[ASN][1000 genomes]
rs57110692	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57837691	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61141789	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61660810	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6587060	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6587061	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6587218	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587221	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67217337	0.86[ASN][1000 genomes]
rs7207458	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7211948	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7212571	0.84[ASN][1000 genomes]
rs7213349	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7213816	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7215097	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7215432	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7218859	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7223476	0.95[ASN][1000 genomes]
rs73299658	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73301548	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs733794	0.85[ASN][1000 genomes]
rs73981849	0.96[EUR][1000 genomes]
rs757494	0.85[ASN][1000 genomes]
rs757495	0.85[ASN][1000 genomes]
rs8071274	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8076627	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8077051	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8077852	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9896190	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9899514	0.98[EUR][1000 genomes]
rs9901102	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9905976	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9911605	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9912844	0.81[ASN][1000 genomes]
rs9913394	0.93[EUR][1000 genomes]
rs9914219	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9941362	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9941376	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1065758	chr17:20141912-20464366	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv543262	chr17:20141912-20464366	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv1057389	chr17:20158343-20256498	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv427993	chr17:20171398-20482061	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
13	nsv520772	chr17:20184501-20522444	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
14	nsv521025	chr17:20198024-20514921	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73309111	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20187800-20223800	Weak transcription	Pancreas	Pancrea
2	chr17:20201000-20220000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:20204400-20216800	Weak transcription	Gastric	stomach
4	chr17:20204800-20212200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:20207800-20211000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:20207800-20211200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr17:20207800-20211400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:20208000-20211400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:20208000-20212000	ZNF genes & repeats	A549	lung
10	chr17:20208000-20212200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:20208200-20211400	Strong transcription	Hela-S3	cervix
12	chr17:20208400-20213000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:20208600-20213000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:20208600-20213000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:20208800-20213000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr17:20209000-20211200	ZNF genes & repeats	Fetal Brain Female	brain
17	chr17:20209000-20211400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr17:20209200-20211000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr17:20209200-20211200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr17:20209400-20211000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr17:20209400-20211000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr17:20209400-20211000	ZNF genes & repeats	NHEK	skin
23	chr17:20209400-20211200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:20209400-20211200	ZNF genes & repeats	Brain Germinal Matrix	brain
25	chr17:20209400-20211200	ZNF genes & repeats	Brain Hippocampus Middle	brain
26	chr17:20209400-20211200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr17:20209400-20211200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr17:20209400-20211200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr17:20209400-20211400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:20209400-20211400	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr17:20209400-20211600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:20209400-20211600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:20209400-20213000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:20209400-20213200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr17:20209600-20210800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr17:20209600-20211000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr17:20209600-20211000	ZNF genes & repeats	HMEC	breast
38	chr17:20209600-20211200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr17:20209600-20211600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr17:20209800-20211000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:20209800-20211000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:20209800-20211000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chr17:20209800-20211000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:20209800-20211000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:20209800-20211000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:20209800-20211000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
47	chr17:20209800-20211000	ZNF genes & repeats	Brain Angular Gyrus	brain
48	chr17:20209800-20211000	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr17:20209800-20211000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
50	chr17:20209800-20211000	ZNF genes & repeats	Ovary	ovary

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