Variant report

Variant	rs34878593
Chromosome Location	chr16:70654728-70654729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11865702	0.80[ASN][1000 genomes]
rs12051132	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12596022	0.82[ASN][1000 genomes]
rs12596821	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12596851	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12596861	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12596931	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12599245	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12599523	0.80[AMR][1000 genomes]
rs12599588	0.82[AMR][1000 genomes]
rs12599982	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12708905	0.85[ASN][1000 genomes]
rs12917749	0.83[ASN][1000 genomes]
rs12923782	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12924106	0.85[ASN][1000 genomes]
rs12932251	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13330163	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1965253	0.80[AMR][1000 genomes]
rs34538878	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3813904	0.80[ASN][1000 genomes]
rs4985412	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985539	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4985540	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4985541	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4985543	0.84[AFR][1000 genomes]
rs4985548	0.85[ASN][1000 genomes]
rs6499328	0.84[ASN][1000 genomes]
rs6499329	0.83[ASN][1000 genomes]
rs6499330	0.81[ASN][1000 genomes]
rs7193968	0.83[ASN][1000 genomes]
rs72792838	0.81[ASN][1000 genomes]
rs8053536	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8061569	0.80[ASN][1000 genomes]
rs8061854	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14380	chr16:70650573-70660117	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34878593	IL34	cis	lung	GTEx
rs34878593	CLEC18A	cis	Whole Blood	GTEx
rs34878593	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70645400-70655000	Weak transcription	Placenta	Placenta
2	chr16:70647400-70669200	Weak transcription	Right Atrium	heart
3	chr16:70647800-70664800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:70652400-70656800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:70652600-70655400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:70652800-70655600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:70652800-70656000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr16:70652800-70656000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:70653000-70655800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr16:70653200-70656000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr16:70653400-70656000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr16:70653800-70656000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:70654200-70655400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr16:70654400-70655200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr16:70654600-70655200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr16:70654600-70655400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr16:70654600-70655400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:70654600-70655800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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