Variant report

Variant	rs12513787
Chromosome Location	chr5:112038837-112038838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112038553..112041521-chr5:112056606..112058817,2	K562	blood:
2	chr5:112036075..112039383-chr5:112077944..112080401,3	K562	blood:
3	chr5:112036312..112038935-chr5:112040526..112042912,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10051624	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10071425	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10072068	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10075281	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10075323	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10075377	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10076641	0.81[EUR][1000 genomes]
rs10213844	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10463642	0.93[ASN][1000 genomes]
rs10477483	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11241182	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11241183	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11241184	0.83[EUR][1000 genomes]
rs11241185	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11749632	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11749701	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12332692	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12513804	0.84[EUR][1000 genomes]
rs12518091	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12658609	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13156251	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1441367	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1465910	0.80[EUR][1000 genomes]
rs1530256	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17285505	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1866924	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1914	0.81[AMR][1000 genomes]
rs1968557	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1974786	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2019720	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2099810	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253987	0.82[AMR][1000 genomes]
rs2289484	0.82[EUR][1000 genomes]
rs2431239	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2431241	0.81[AMR][1000 genomes]
rs2431512	0.88[EUR][1000 genomes]
rs2439589	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2464803	0.81[AMR][1000 genomes]
rs2545158	0.81[AMR][1000 genomes]
rs2546106	0.81[AMR][1000 genomes]
rs2546108	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2546117	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2707763	0.82[EUR][1000 genomes]
rs2707765	0.87[EUR][1000 genomes]
rs28373740	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28578275	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2900066	0.80[EUR][1000 genomes]
rs2901844	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs351772	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35414976	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs390092	0.81[AMR][1000 genomes]
rs414098	0.85[EUR][1000 genomes]
rs458906	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs467033	0.87[EUR][1000 genomes]
rs4705486	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4705559	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705573	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705608	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4705610	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4705624	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs548710	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6594643	0.80[EUR][1000 genomes]
rs6594646	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6862050	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6864688	0.87[EUR][1000 genomes]
rs6879057	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6894351	0.80[EUR][1000 genomes]
rs7704618	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7727738	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs861674	0.81[EUR][1000 genomes]
rs9326862	0.83[EUR][1000 genomes]
rs9326863	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs953916	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9647582	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9647583	0.85[AMR][1000 genomes];0.89[EUR][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	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112033400-112039400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:112033400-112042600	Weak transcription	Ovary	ovary
3	chr5:112034000-112039200	Weak transcription	K562	blood
4	chr5:112037800-112039600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:112038200-112039400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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