Variant report

Variant	rs3121616
Chromosome Location	chr10:26970092-26970093
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	chr10:26968705..26971277-chr10:26973238..26975564,2	K562	blood:
2	chr10:26965108..26970102-chr10:26984839..26987979,6	K562	blood:

Variant related genes	Relation type
ENSG00000148459	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10764634	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1613801	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1616471	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1677711	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1677713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1677714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1677715	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1677726	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1677727	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1677731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1677732	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1677733	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1677734	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1677735	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1677736	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1677737	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1677738	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1677739	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1748338	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1748340	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1748341	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1748342	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1748343	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1748344	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1748345	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1748346	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1748347	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1748348	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1748349	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1748350	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1748351	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1780170	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1780171	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1780172	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1780173	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1780175	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1780177	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1780178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1780185	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1780187	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1780188	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1809358	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1812155	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1871299	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1871300	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1947788	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2005118	0.87[EUR][1000 genomes]
rs2005119	0.89[EUR][1000 genomes]
rs2005253	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2011849	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2011860	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2224898	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2251814	0.84[EUR][1000 genomes]
rs2448109	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2448110	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2448112	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2448113	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2448114	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2448115	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2448116	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2448118	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2448119	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2448120	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2448121	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2448122	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2448123	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2448124	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2448125	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2448126	0.87[AMR][1000 genomes]
rs2448128	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2448129	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2448131	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477282	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2477283	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2477285	0.85[EUR][1000 genomes]
rs2477286	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477287	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2477288	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2477289	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2477290	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2477291	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2477293	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489558	0.87[EUR][1000 genomes]
rs2489584	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489585	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2489586	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2489587	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489588	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489590	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489591	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489592	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2489593	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2489594	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2489595	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2489596	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2489597	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2489598	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2489600	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489601	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489602	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2489603	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2489605	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2860415	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2996643	0.83[ASN][1000 genomes]
rs3101794	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3118159	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3118160	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3121618	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4749176	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7905832	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7910625	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7914153	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7916511	0.82[AMR][1000 genomes]
rs899374	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9417486	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9418574	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	esv1798973	chr10:26968171-27001814	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv550233	chr10:26968171-27011323	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3121616	PDSS1	cis	Whole Blood	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26967000-26973800	Weak transcription	K562	blood
2	chr10:26969400-26972200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr10:26969600-26971800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr10:26969600-26973000	Enhancers	Dnd41	blood
5	chr10:26969600-26974800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr10:26969800-26970600	Weak transcription	Fetal Thymus	thymus
7	chr10:26969800-26972000	Weak transcription	Thymus	Thymus
8	chr10:26970000-26970800	Enhancers	Primary neutrophils fromperipheralblood	blood

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