Variant report

Variant	rs2968831
Chromosome Location	chr2:55292823-55292824
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55275048..55277656-chr2:55291776..55294374,2	K562	blood:
2	chr2:55291031..55292984-chr2:55393872..55396324,2	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10179594	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10205017	0.89[EUR][1000 genomes]
rs12989576	0.91[EUR][1000 genomes]
rs13002841	0.89[EUR][1000 genomes]
rs13023202	0.90[EUR][1000 genomes]
rs2580763	0.86[EUR][1000 genomes]
rs2580766	0.90[EUR][1000 genomes]
rs2588520	0.90[EUR][1000 genomes]
rs2919125	0.90[EUR][1000 genomes]
rs2920839	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2920861	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920863	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2920872	0.81[ASN][1000 genomes]
rs2920881	0.83[ASN][1000 genomes]
rs2920883	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920884	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920889	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920890	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920897	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968789	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2968792	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2968810	0.81[ASN][1000 genomes]
rs2968812	0.81[ASN][1000 genomes]
rs2968813	0.81[ASN][1000 genomes]
rs2968814	0.81[ASN][1000 genomes]
rs2968823	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2968824	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2968826	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2968829	0.86[ASN][1000 genomes]
rs2972065	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972066	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2972067	0.83[ASN][1000 genomes]
rs2972069	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972073	0.83[ASN][1000 genomes]
rs2972074	0.81[ASN][1000 genomes]
rs2972076	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3099068	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7559248	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2968831	RTN4	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55289600-55294200	Weak transcription	Lung	lung
2	chr2:55292200-55293000	Enhancers	Fetal Heart	heart
3	chr2:55292800-55293000	Enhancers	K562	blood

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