Variant report

Variant	rs8075790
Chromosome Location	chr17:20880681-20880682
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1038109	0.91[JPT][hapmap]
rs1044410	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1044414	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1044420	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11204324	0.80[ASN][1000 genomes]
rs11204328	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650829	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651632	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11654680	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11655364	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11655562	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11658822	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11658914	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11659113	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11871167	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12600604	0.94[ASN][1000 genomes]
rs12936249	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1531567	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1993901	0.86[JPT][hapmap]
rs2009756	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2291036	0.91[JPT][hapmap]
rs2291037	0.91[JPT][hapmap]
rs2364327	0.81[JPT][hapmap]
rs2364328	0.86[JPT][hapmap]
rs2364332	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2364333	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs28419675	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595150	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3612	0.91[JPT][hapmap]
rs3816664	0.95[JPT][hapmap]
rs3943299	0.95[JPT][hapmap]
rs4985813	0.83[ASN][1000 genomes]
rs4985820	0.91[JPT][hapmap]
rs4985935	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs4985941	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4985946	1.00[CEU][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985947	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985948	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4985949	0.93[ASN][1000 genomes]
rs4985952	0.93[ASN][1000 genomes]
rs4985953	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4985954	0.86[ASN][1000 genomes]
rs4985955	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4985962	0.95[JPT][hapmap]
rs4985974	0.86[JPT][hapmap]
rs5005801	0.91[JPT][hapmap]
rs55730423	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55749232	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55985304	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62056767	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6587109	0.95[JPT][hapmap]
rs6587115	0.91[JPT][hapmap]
rs6650606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7211094	0.86[JPT][hapmap]
rs7213253	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215369	0.95[JPT][hapmap]
rs7216090	0.83[ASN][1000 genomes]
rs7219244	0.89[JPT][hapmap]
rs7220023	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223388	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7226229	0.90[JPT][hapmap]
rs8064435	0.95[JPT][hapmap]
rs8071311	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs8076078	0.94[ASN][1000 genomes]
rs8082210	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs880652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880654	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs899334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs899335	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs899336	0.86[ASN][1000 genomes]
rs899338	0.86[ASN][1000 genomes]
rs899342	0.86[JPT][hapmap]
rs961004	0.94[ASN][1000 genomes]
rs9797279	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs9896259	0.91[JPT][hapmap]
rs9896301	0.91[JPT][hapmap]
rs9896416	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9897434	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9898265	0.86[JPT][hapmap]
rs9905095	0.83[ASW][hapmap];0.88[YRI][hapmap]
rs996065	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv1064365	chr17:20801739-20890716	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv2006	chr17:20846763-20892730	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8075790	ALDH3A1	cis	cerebellum	SCAN
rs8075790	RP11-344E13.3	cis	Whole Blood	GTEx
rs8075790	RP11-344E13.3	cis	Thyroid	GTEx
rs8075790	ALDH3A2	cis	cerebellum	SCAN
rs8075790	RP11-344E13.3	cis	Artery Tibial	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20848200-20896600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:20852800-20882600	Weak transcription	K562	blood
3	chr17:20859000-20881800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:20862600-20890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:20866000-20886600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr17:20868000-20884800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:20870000-20883000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:20871800-20886800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr17:20873200-20886400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr17:20873200-20890200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:20874600-20896600	Weak transcription	Spleen	Spleen
12	chr17:20875400-20881000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr17:20879600-20880800	Enhancers	Pancreas	Pancrea
14	chr17:20879800-20882800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:20879800-20883000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:20879800-20883000	Weak transcription	NHEK	skin
17	chr17:20880000-20880800	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr17:20880200-20881200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr17:20880400-20881000	Enhancers	Liver	Liver
20	chr17:20880400-20881400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:20880400-20881400	Enhancers	HepG2	liver
22	chr17:20880400-20882600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr17:20880400-20882800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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