Variant report

Variant	rs73981849
Chromosome Location	chr17:20121545-20121546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11868429	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12051550	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12051844	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12051865	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16959946	0.82[AMR][1000 genomes]
rs16960700	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16960715	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16960717	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16960730	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16960735	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16964352	0.86[AMR][1000 genomes]
rs1971043	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1971044	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28550747	0.82[AMR][1000 genomes]
rs3751979	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57110692	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61141789	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61660810	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6587060	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587061	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6587218	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6587221	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7207458	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7211948	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7213349	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7213816	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7215097	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7215432	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7218859	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299658	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73301548	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73309111	0.96[EUR][1000 genomes]
rs8076627	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8077051	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8077852	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9896190	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9897161	0.82[AMR][1000 genomes]
rs9897168	0.82[AMR][1000 genomes]
rs9899514	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9901102	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9901484	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9902683	0.82[AMR][1000 genomes]
rs9905976	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9908032	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9909156	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9911605	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9913018	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9913394	0.89[EUR][1000 genomes]
rs9914219	0.97[EUR][1000 genomes]
rs9941362	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9941376	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
16	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
17	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73981849	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20106800-20130200	Weak transcription	Fetal Stomach	stomach
2	chr17:20106800-20131400	Weak transcription	Fetal Intestine Large	intestine
3	chr17:20107600-20131600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:20108000-20130200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:20108000-20130200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:20108400-20131400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr17:20109600-20135200	Weak transcription	Gastric	stomach
8	chr17:20110800-20130400	Weak transcription	HSMMtube	muscle
9	chr17:20111600-20127400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:20111600-20166000	Weak transcription	Right Ventricle	heart
11	chr17:20112000-20130200	Weak transcription	NH-A	brain
12	chr17:20112200-20127000	Weak transcription	NHEK	skin
13	chr17:20115400-20135000	Weak transcription	Fetal Intestine Small	intestine
14	chr17:20115600-20127200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:20115600-20127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:20115600-20131600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:20115600-20132800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr17:20115800-20127000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:20115800-20127200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:20115800-20131400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:20116000-20130200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:20117000-20130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:20117200-20131600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr17:20117800-20123000	Enhancers	Brain Cingulate Gyrus	brain
25	chr17:20118000-20122000	Enhancers	Brain Angular Gyrus	brain
26	chr17:20118200-20122000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:20118200-20122800	Enhancers	Brain Substantia Nigra	brain
28	chr17:20118400-20121600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:20118600-20134200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:20118800-20122200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr17:20118800-20125400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:20118800-20127200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr17:20119200-20122000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr17:20119200-20122400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr17:20119200-20122400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:20119400-20122600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr17:20119800-20125400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr17:20119800-20127000	Weak transcription	Brain Germinal Matrix	brain
39	chr17:20120000-20122800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:20120200-20127200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr17:20120400-20125800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr17:20120800-20125800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr17:20120800-20131600	Weak transcription	GM12878-XiMat	blood
44	chr17:20121000-20121800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr17:20121000-20121800	Enhancers	Brain Anterior Caudate	brain
46	chr17:20121000-20123200	Enhancers	Brain Hippocampus Middle	brain
47	chr17:20121000-20125600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr17:20121000-20127000	Weak transcription	Hela-S3	cervix
49	chr17:20121000-20127200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr17:20121000-20127200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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