Variant report

Variant	rs11862453
Chromosome Location	chr16:75699856-75699857
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10468346	1.00[ASN][1000 genomes]
rs1133766	0.88[EUR][1000 genomes]
rs11546854	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640406	0.88[EUR][1000 genomes]
rs11640743	0.88[EUR][1000 genomes]
rs11641108	0.88[EUR][1000 genomes]
rs11646086	0.88[EUR][1000 genomes]
rs11646574	0.88[EUR][1000 genomes]
rs11648206	0.88[EUR][1000 genomes]
rs11649504	0.88[EUR][1000 genomes]
rs11649505	0.88[EUR][1000 genomes]
rs11649571	0.88[EUR][1000 genomes]
rs11860980	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11864677	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866252	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941008	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942022	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942809	0.94[EUR][1000 genomes]
rs16942870	0.94[EUR][1000 genomes]
rs16943274	0.85[EUR][1000 genomes]
rs16943285	0.85[EUR][1000 genomes]
rs1865492	0.94[EUR][1000 genomes]
rs1991052	0.94[EUR][1000 genomes]
rs2233803	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2233805	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2233810	0.94[EUR][1000 genomes]
rs28571860	1.00[ASN][1000 genomes]
rs35135836	0.88[EUR][1000 genomes]
rs56892159	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58000098	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58657577	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58996069	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59624897	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59794444	0.89[EUR][1000 genomes]
rs60376290	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60415088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60545422	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60664312	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61588474	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62619985	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186790	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7193257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7195089	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73613267	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73613272	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73615089	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8051771	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989360	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11862453	KARS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75692400-75704000	Weak transcription	Psoas Muscle	Psoas
2	chr16:75693800-75723200	Weak transcription	Ovary	ovary
3	chr16:75694400-75705800	Weak transcription	Pancreas	Pancrea
4	chr16:75695000-75702200	Weak transcription	Spleen	Spleen
5	chr16:75695600-75704600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:75695600-75713200	Weak transcription	Right Atrium	heart
7	chr16:75696000-75706400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr16:75696000-75713200	Weak transcription	Left Ventricle	heart
9	chr16:75696000-75716200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:75696200-75700200	Weak transcription	Thymus	Thymus
11	chr16:75696200-75712400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:75696400-75700200	Weak transcription	Fetal Stomach	stomach
13	chr16:75696400-75706000	Weak transcription	Aorta	Aorta

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