Variant report

Variant	rs9348211
Chromosome Location	chr6:167375173-167375174
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:167375094-167375300	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167374431..167376778-chr6:167389828..167392620,2	K562	blood:
2	chr6:167370784..167372453-chr6:167373625..167375404,2	K562	blood:

Variant related genes	Relation type
RNASET2	TF binding region

Extended variants
information (count: 163 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs1044059	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10455982	0.82[ASN][1000 genomes]
rs10484531	0.83[ASN][1000 genomes]
rs1060404	0.83[ASN][1000 genomes]
rs10946198	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10946199	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10946203	0.82[ASN][1000 genomes]
rs10946204	0.83[ASN][1000 genomes]
rs10946207	0.83[ASN][1000 genomes]
rs1187530	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1187532	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1211447	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12212247	0.87[ASN][1000 genomes]
rs13192426	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13195812	0.82[ASN][1000 genomes]
rs1322077	0.83[ASN][1000 genomes]
rs1590257	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1620933	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1743439	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1743440	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1743441	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1794693	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1794694	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1794696	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1794697	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1794699	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1794700	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1811120	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1819333	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2013815	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2015864	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2038580	0.83[ASN][1000 genomes]
rs2149083	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2149084	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2149085	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2149090	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2149091	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2149093	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237272	0.80[ASN][1000 genomes]
rs2237276	0.81[ASN][1000 genomes]
rs2247325	0.92[ASN][1000 genomes]
rs2345571	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2345573	0.81[EUR][1000 genomes]
rs239934	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs239935	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2757042	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2757044	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2757046	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2757050	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2757052	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2757054	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2769345	0.83[AMR][1000 genomes]
rs2769346	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2769347	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2769348	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2769349	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2769351	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2769352	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2769354	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2769355	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs364283	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs364451	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs365189	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3752520	0.83[ASN][1000 genomes]
rs376097	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs376551	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs376574	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs377232	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs377753	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs385863	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs386548	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs387733	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs388406	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs389946	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs389956	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs393558	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs393727	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs394522	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs397713	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs398278	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs400063	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs400176	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs400837	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs402191	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs402749	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs404222	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs405553	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs406095	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs407515	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs408040	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs408080	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs408087	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs408918	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs409356	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs413232	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs414437	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs415842	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs415890	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs415987	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs416131	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs421214	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs422094	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs422562	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs422694	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs422780	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs424185	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs425039	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs427824	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs428805	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs429083	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs430097	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs430145	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs430293	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs430477	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs433191	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs434093	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs436625	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs436707	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs439237	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs439553	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs442298	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs443570	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs444210	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs444988	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs447042	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs448060	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs453184	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4710147	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4710160	0.83[EUR][1000 genomes]
rs4710161	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4710171	0.83[ASN][1000 genomes]
rs4997107	0.82[EUR][1000 genomes]
rs5020533	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6904946	0.82[ASN][1000 genomes]
rs6920364	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6923582	0.82[ASN][1000 genomes]
rs6929466	0.87[ASN][1000 genomes]
rs6939196	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs86755	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9295385	0.82[ASN][1000 genomes]
rs932644	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9457247	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9457249	0.83[ASN][1000 genomes]
rs9457251	0.83[ASN][1000 genomes]
rs9457252	0.82[ASN][1000 genomes]
rs9457256	0.83[ASN][1000 genomes]
rs9457259	0.82[ASN][1000 genomes]
rs9459827	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9459836	0.87[ASN][1000 genomes]
rs9459838	0.83[ASN][1000 genomes]
rs9459840	0.82[ASN][1000 genomes]
rs9459841	0.82[ASN][1000 genomes]
rs9459849	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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 miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv1034359	chr6:167359643-167384714	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription	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
rs9348211	RNASET2	cis	Whole Blood	GTEx
rs9348211	RNASET2	cis	Skin Sun Exposed Lower leg	GTEx
rs9348211	AL133458.1	cis	Skin Sun Exposed Lower leg	GTEx
rs9348211	AL133458.1	cis	Whole Blood	GTEx
rs9348211	RNASET2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167371400-167411000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:167373200-167375200	Enhancers	Primary B cells from peripheral blood	blood
3	chr6:167373600-167375600	Weak transcription	Osteobl	bone
4	chr6:167373600-167402400	Weak transcription	Liver	Liver
5	chr6:167373800-167378200	Enhancers	HepG2	liver
6	chr6:167373800-167384800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:167374000-167375200	Weak transcription	Fetal Thymus	thymus

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