Variant report

Variant	rs13018272
Chromosome Location	chr2:67561068-67561069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12988210	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs12996359	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13015319	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs13016330	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13016336	0.83[AMR][1000 genomes]
rs13026513	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1384743	0.83[AFR][1000 genomes]
rs1384744	0.83[AFR][1000 genomes]
rs17544516	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17544551	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17603029	0.83[AFR][1000 genomes]
rs17603914	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2171176	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34274370	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34281542	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34547630	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs34636997	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34997300	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs35141978	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35340993	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35570926	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs35593975	0.83[AMR][1000 genomes]
rs35607813	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs35610403	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4428006	0.88[AMR][1000 genomes]
rs62154898	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs62154948	0.82[AMR][1000 genomes]
rs62154949	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62154950	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62154951	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62154952	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62156538	0.83[AFR][1000 genomes]
rs62156540	0.83[AFR][1000 genomes]
rs62156541	0.83[AFR][1000 genomes]
rs62158282	0.83[AFR][1000 genomes]
rs62158289	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62158290	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6710099	0.83[AMR][1000 genomes]
rs6725762	0.83[AMR][1000 genomes]
rs6760857	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13018272	ETAA1	cis	brain	BrainEAC

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67551800-67565200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:67557200-67561600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:67558400-67563800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:67558600-67561600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr2:67558600-67561600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:67558600-67561600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr2:67558600-67561600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:67558600-67561600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:67558600-67561600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:67558600-67565200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:67558800-67561600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:67559000-67561800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:67560200-67561600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:67560400-67561600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:67560400-67562400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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