Variant report

Variant	rs72644841
Chromosome Location	chr12:48411987-48411988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48395740..48398491-chr12:48410326..48412487,2	MCF-7	breast:
2	chr12:48411445..48413421-chr12:48418888..48421614,3	MCF-7	breast:
3	chr12:48406038..48410831-chr12:48411860..48418424,9	MCF-7	breast:
4	chr12:48391315..48400584-chr12:48411914..48418489,16	MCF-7	breast:
5	chr12:48407869..48410123-chr12:48411477..48413880,2	K562	blood:
6	chr12:48410357..48413530-chr12:48413703..48417962,3	K562	blood:

Variant related genes	Relation type
ENSG00000257955	Chromatin interaction
ENSG00000139219	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1018973	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10783226	0.87[EUR][1000 genomes]
rs10783227	0.92[EUR][1000 genomes]
rs11612578	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11612970	0.88[EUR][1000 genomes]
rs11613485	0.89[EUR][1000 genomes]
rs12580764	0.91[EUR][1000 genomes]
rs12581972	0.83[EUR][1000 genomes]
rs1476608	0.85[EUR][1000 genomes]
rs1635526	0.85[EUR][1000 genomes]
rs1635529	0.82[EUR][1000 genomes]
rs17122565	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17122611	0.91[EUR][1000 genomes]
rs17122612	0.91[EUR][1000 genomes]
rs17122613	0.89[EUR][1000 genomes]
rs17122651	0.85[EUR][1000 genomes]
rs1793931	0.87[EUR][1000 genomes]
rs1793933	0.87[EUR][1000 genomes]
rs1793955	0.81[EUR][1000 genomes]
rs1859441	0.95[EUR][1000 genomes]
rs1859444	0.91[EUR][1000 genomes]
rs1968071	0.85[EUR][1000 genomes]
rs1990029	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2286022	0.90[EUR][1000 genomes]
rs3742074	0.91[EUR][1000 genomes]
rs3803183	0.92[EUR][1000 genomes]
rs3803184	0.92[EUR][1000 genomes]
rs3825404	0.92[EUR][1000 genomes]
rs4293182	0.89[EUR][1000 genomes]
rs4589362	0.85[EUR][1000 genomes]
rs4760611	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4760614	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4760615	0.94[EUR][1000 genomes]
rs4760618	0.92[EUR][1000 genomes]
rs4760677	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57054831	0.85[EUR][1000 genomes]
rs57380031	0.89[EUR][1000 genomes]
rs58046797	0.85[EUR][1000 genomes]
rs59766465	0.90[EUR][1000 genomes]
rs60567660	0.85[EUR][1000 genomes]
rs60629297	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60681522	0.91[EUR][1000 genomes]
rs6580647	0.97[EUR][1000 genomes]
rs6580649	0.94[EUR][1000 genomes]
rs6580651	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132668	0.94[EUR][1000 genomes]
rs7133249	0.91[EUR][1000 genomes]
rs72644842	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72644843	0.91[EUR][1000 genomes]
rs72644844	0.91[EUR][1000 genomes]
rs7296913	0.85[EUR][1000 genomes]
rs7305954	0.95[EUR][1000 genomes]
rs7310579	0.94[EUR][1000 genomes]
rs7312326	0.85[EUR][1000 genomes]
rs7957764	0.94[EUR][1000 genomes]
rs7959755	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7963934	0.85[EUR][1000 genomes]
rs7967762	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7971668	0.91[EUR][1000 genomes]
rs9651993	0.96[EUR][1000 genomes]
rs9805048	0.95[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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72644841	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48399400-48415000	Weak transcription	Right Atrium	heart
2	chr12:48410600-48412400	Enhancers	Fetal Intestine Large	intestine
3	chr12:48410600-48414800	Weak transcription	Hela-S3	cervix
4	chr12:48410800-48412400	Enhancers	Fetal Intestine Small	intestine
5	chr12:48411400-48412000	Enhancers	Duodenum Mucosa	Duodenum
6	chr12:48411400-48412400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:48411400-48412600	Enhancers	HepG2	liver
8	chr12:48411600-48415000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48411600-48415200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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