Variant report

Variant	rs2005118
Chromosome Location	chr10:26962121-26962122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:26961383..26963009-chr10:26967023..26968974,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10764634	0.81[EUR][1000 genomes]
rs12773328	0.81[ASN][1000 genomes]
rs1613801	0.83[EUR][1000 genomes]
rs1616471	0.84[EUR][1000 genomes]
rs1677711	0.86[EUR][1000 genomes]
rs1677713	0.88[EUR][1000 genomes]
rs1677714	0.88[EUR][1000 genomes]
rs1677715	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1677727	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1677731	0.88[EUR][1000 genomes]
rs1677732	0.85[EUR][1000 genomes]
rs1677733	0.86[EUR][1000 genomes]
rs1677734	0.86[EUR][1000 genomes]
rs1677735	0.87[EUR][1000 genomes]
rs1677736	0.85[EUR][1000 genomes]
rs1677738	0.87[EUR][1000 genomes]
rs1677739	0.86[EUR][1000 genomes]
rs1748340	0.87[EUR][1000 genomes]
rs1748341	0.87[EUR][1000 genomes]
rs1748342	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1748343	0.87[EUR][1000 genomes]
rs1748344	0.87[EUR][1000 genomes]
rs1748345	0.87[EUR][1000 genomes]
rs1748346	0.86[EUR][1000 genomes]
rs1748347	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1748348	0.85[EUR][1000 genomes]
rs1748349	0.85[EUR][1000 genomes]
rs1748350	0.84[EUR][1000 genomes]
rs1748351	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17558625	0.88[ASN][1000 genomes]
rs17558709	0.90[ASN][1000 genomes]
rs1780170	0.86[EUR][1000 genomes]
rs1780171	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1780172	0.86[EUR][1000 genomes]
rs1780173	0.87[EUR][1000 genomes]
rs1780175	0.85[EUR][1000 genomes]
rs1780178	0.88[EUR][1000 genomes]
rs1780187	0.83[EUR][1000 genomes]
rs1780188	0.84[EUR][1000 genomes]
rs1809358	0.85[EUR][1000 genomes]
rs1812155	0.85[EUR][1000 genomes]
rs1824851	0.80[ASN][1000 genomes]
rs1871299	0.84[EUR][1000 genomes]
rs1871300	0.86[EUR][1000 genomes]
rs1947788	0.85[EUR][1000 genomes]
rs2005119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2005253	0.86[EUR][1000 genomes]
rs2011849	0.85[EUR][1000 genomes]
rs2011860	0.85[EUR][1000 genomes]
rs2224898	0.85[EUR][1000 genomes]
rs2251814	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2254745	0.89[ASN][1000 genomes]
rs2448108	0.84[ASN][1000 genomes]
rs2448109	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2448110	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2448112	0.84[EUR][1000 genomes]
rs2448113	0.85[EUR][1000 genomes]
rs2448114	0.85[EUR][1000 genomes]
rs2448115	0.84[EUR][1000 genomes]
rs2448116	0.85[EUR][1000 genomes]
rs2448119	0.86[EUR][1000 genomes]
rs2448120	0.85[EUR][1000 genomes]
rs2448121	0.84[EUR][1000 genomes]
rs2448122	0.84[EUR][1000 genomes]
rs2448123	0.84[EUR][1000 genomes]
rs2448124	0.83[EUR][1000 genomes]
rs2448125	0.85[EUR][1000 genomes]
rs2448128	0.85[EUR][1000 genomes]
rs2448129	0.85[EUR][1000 genomes]
rs2448131	0.86[EUR][1000 genomes]
rs2477278	0.87[ASN][1000 genomes]
rs2477282	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2477283	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2477285	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2477286	0.86[EUR][1000 genomes]
rs2477288	0.85[EUR][1000 genomes]
rs2477289	0.86[EUR][1000 genomes]
rs2477290	0.86[EUR][1000 genomes]
rs2477291	0.85[EUR][1000 genomes]
rs2477293	0.85[EUR][1000 genomes]
rs2489556	0.89[ASN][1000 genomes]
rs2489558	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2489560	0.87[ASN][1000 genomes]
rs2489584	0.85[EUR][1000 genomes]
rs2489585	0.84[EUR][1000 genomes]
rs2489586	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2489587	0.86[EUR][1000 genomes]
rs2489588	0.86[EUR][1000 genomes]
rs2489590	0.86[EUR][1000 genomes]
rs2489591	0.85[EUR][1000 genomes]
rs2489592	0.82[EUR][1000 genomes]
rs2489593	0.84[EUR][1000 genomes]
rs2489594	0.83[EUR][1000 genomes]
rs2489595	0.83[EUR][1000 genomes]
rs2489596	0.84[EUR][1000 genomes]
rs2489597	0.85[EUR][1000 genomes]
rs2489600	0.86[EUR][1000 genomes]
rs2489601	0.86[EUR][1000 genomes]
rs2489602	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2489603	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2489605	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2860415	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2887183	0.89[ASN][1000 genomes]
rs2985470	0.82[ASN][1000 genomes]
rs2985471	0.89[ASN][1000 genomes]
rs2985487	0.83[ASN][1000 genomes]
rs2996641	0.89[ASN][1000 genomes]
rs3101794	0.86[EUR][1000 genomes]
rs3118157	0.89[ASN][1000 genomes]
rs3118159	0.87[EUR][1000 genomes]
rs3118160	0.86[EUR][1000 genomes]
rs3121616	0.87[EUR][1000 genomes]
rs3121618	0.86[EUR][1000 genomes]
rs4749176	0.85[EUR][1000 genomes]
rs7905832	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7910625	0.85[EUR][1000 genomes]
rs7914153	0.86[EUR][1000 genomes]
rs7919952	0.84[ASN][1000 genomes]
rs899374	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9417486	0.82[EUR][1000 genomes]
rs9418574	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv3436664	chr10:26860755-26969397	Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1041766	chr10:26890945-26969381	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1046911	chr10:26894348-26969381	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1044057	chr10:26894348-26971879	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv516275	chr10:26896432-26968171	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3333006	chr10:26908323-26985227	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3353004	chr10:26912762-26966282	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2005118	PDSS1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26957000-26962200	Weak transcription	K562	blood

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