Variant report

Variant	rs10051624
Chromosome Location	chr5:112033044-112033045
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112030920..112033533-chr5:112072037..112074629,2	MCF-7	breast:
2	chr5:112023980..112026718-chr5:112033004..112035530,2	K562	blood:
3	chr5:112032150..112034629-chr5:112042719..112045906,3	MCF-7	breast:
4	chr5:112030435..112033305-chr5:112072369..112073887,2	K562	blood:
5	chr5:112032190..112036026-chr5:112043206..112045704,4	K562	blood:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10071425	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10072068	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10075281	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10075323	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10075377	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10076641	0.81[EUR][1000 genomes]
rs10213844	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10463642	0.93[ASN][1000 genomes]
rs10477483	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11241182	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11241183	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11241184	0.84[EUR][1000 genomes]
rs11241185	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11749632	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11749701	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12332692	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12513787	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12513804	0.84[EUR][1000 genomes]
rs12518091	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12658609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12719151	0.80[EUR][1000 genomes]
rs13156251	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1441367	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1465910	0.81[EUR][1000 genomes]
rs1530256	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17285505	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1866924	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1914	0.83[AMR][1000 genomes]
rs1968557	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1974786	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2019720	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2099810	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251913	0.82[AMR][1000 genomes]
rs2253987	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2289484	0.83[EUR][1000 genomes]
rs2431239	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2431241	0.83[AMR][1000 genomes]
rs2431512	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2439589	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2464803	0.83[AMR][1000 genomes]
rs2545158	0.83[AMR][1000 genomes]
rs2546106	0.83[AMR][1000 genomes]
rs2546107	0.81[AMR][1000 genomes]
rs2546108	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2546117	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2707763	0.83[EUR][1000 genomes]
rs2707765	0.88[EUR][1000 genomes]
rs28373740	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28578275	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2900066	0.82[EUR][1000 genomes]
rs2901844	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs351772	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35414976	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs390092	0.83[AMR][1000 genomes]
rs414098	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs458906	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs467033	0.88[EUR][1000 genomes]
rs4705486	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4705559	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4705573	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705608	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4705610	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4705624	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4705815	0.80[EUR][1000 genomes]
rs4705816	0.80[EUR][1000 genomes]
rs511906	0.82[AMR][1000 genomes]
rs518013	0.81[AMR][1000 genomes]
rs548710	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62364017	0.80[EUR][1000 genomes]
rs6594643	0.82[EUR][1000 genomes]
rs6594644	0.80[EUR][1000 genomes]
rs6594646	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6862050	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6864688	0.88[EUR][1000 genomes]
rs6879057	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6894351	0.81[EUR][1000 genomes]
rs7704618	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7727738	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs861674	0.82[EUR][1000 genomes]
rs9326862	0.84[EUR][1000 genomes]
rs9326863	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs953916	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9647582	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9647583	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs971517	0.81[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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112031400-112033200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:112031400-112034000	Enhancers	K562	blood
3	chr5:112031600-112033600	Weak transcription	Aorta	Aorta
4	chr5:112032800-112033400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:112032800-112033400	Active TSS	Brain Hippocampus Middle	brain
6	chr5:112033000-112033200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:112033000-112033400	Active TSS	Brain Anterior Caudate	brain
8	chr5:112033000-112033400	Active TSS	Brain Cingulate Gyrus	brain
9	chr5:112033000-112033400	Active TSS	Pancreatic Islets	Pancreatic Islet

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