Variant report

Variant	rs1971044
Chromosome Location	chr17:20043473-20043474
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20041429..20043653-chr17:20055230..20057958,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11868429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12051550	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs12051844	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12051865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16942325	0.91[CHB][hapmap]
rs16959946	1.00[CHB][hapmap];0.86[AMR][1000 genomes]
rs16960700	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960715	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16960717	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16960730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16960735	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16964352	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs1971043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28550747	0.86[AMR][1000 genomes]
rs3751979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3764436	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5025290	1.00[CHB][hapmap]
rs57110692	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61141789	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61660810	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587060	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6587061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587218	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6587221	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7207458	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7211948	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7213349	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7213816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7215097	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7215432	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7218859	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73299658	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301548	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73309111	0.95[EUR][1000 genomes]
rs73981849	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8076627	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8077051	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077852	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9896190	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9897161	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9897168	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9899514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9901102	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9901484	0.82[AMR][1000 genomes]
rs9902683	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9905976	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9908032	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9908418	1.00[CHB][hapmap]
rs9909156	0.82[AMR][1000 genomes]
rs9911605	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9913018	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9913394	0.88[EUR][1000 genomes]
rs9914219	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9941362	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9941376	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	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
11	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1971044	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20025800-20044400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:20026200-20049800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:20029600-20058800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:20030200-20043800	Weak transcription	Adipose Nuclei	Adipose
5	chr17:20031600-20052400	Weak transcription	Brain Anterior Caudate	brain
6	chr17:20031800-20052600	Weak transcription	Brain Hippocampus Middle	brain
7	chr17:20031800-20056400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr17:20032000-20058600	Weak transcription	A549	lung
9	chr17:20034800-20049400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr17:20034800-20054400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:20035000-20048600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:20037400-20043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:20037800-20045000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:20038600-20043800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:20038600-20044000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:20038600-20044000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr17:20038800-20043600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr17:20039000-20044000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr17:20039000-20044000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr17:20039000-20044000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr17:20039400-20044000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr17:20039400-20044200	Weak transcription	Spleen	Spleen
23	chr17:20040200-20048600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:20040600-20044000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr17:20040600-20044000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr17:20040600-20052400	Weak transcription	Aorta	Aorta
27	chr17:20041200-20044600	Weak transcription	Ovary	ovary
28	chr17:20042400-20049800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr17:20042800-20058400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:20043200-20046000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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