Variant report

Variant	rs7310579
Chromosome Location	chr12:48427523-48427524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48426621..48428717-chr12:48430919..48432434,2	K562	blood:
2	chr12:48421744..48425259-chr12:48425932..48429243,5	MCF-7	breast:
3	chr12:48426470..48428398-chr12:48428806..48432334,3	MCF-7	breast:
4	chr12:48424222..48426815-chr12:48427012..48429829,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1018973	0.93[CEU][hapmap];0.98[EUR][1000 genomes]
rs10492080	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs10783226	0.85[EUR][1000 genomes]
rs10783227	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs11609399	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs11612578	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs11612970	0.89[EUR][1000 genomes]
rs11613485	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs11613781	0.81[EUR][1000 genomes]
rs12580764	0.92[EUR][1000 genomes]
rs12581972	0.85[EUR][1000 genomes]
rs1476608	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs1635526	0.83[EUR][1000 genomes]
rs1635529	0.80[EUR][1000 genomes]
rs17122611	0.92[EUR][1000 genomes]
rs17122612	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs17122613	0.90[EUR][1000 genomes]
rs17122651	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs1793931	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs1793933	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs1859441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1859444	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs1968071	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs1990029	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs2286022	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742074	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs3803183	0.89[EUR][1000 genomes]
rs3803184	0.89[EUR][1000 genomes]
rs3825404	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs4075913	0.86[CEU][hapmap]
rs4141065	0.87[CEU][hapmap]
rs4293182	0.90[EUR][1000 genomes]
rs4589362	0.87[EUR][1000 genomes]
rs4760611	0.86[CEU][hapmap];0.95[EUR][1000 genomes]
rs4760614	0.98[EUR][1000 genomes]
rs4760615	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760616	0.94[ASN][1000 genomes]
rs4760617	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4760618	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4760620	0.86[CEU][hapmap]
rs4760677	0.98[EUR][1000 genomes]
rs57054831	0.87[EUR][1000 genomes]
rs57380031	0.90[EUR][1000 genomes]
rs58046797	0.87[EUR][1000 genomes]
rs58331734	0.81[EUR][1000 genomes]
rs59766465	0.91[EUR][1000 genomes]
rs60567660	0.87[EUR][1000 genomes]
rs60629297	0.91[EUR][1000 genomes]
rs60681522	0.92[EUR][1000 genomes]
rs6580647	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs6580649	0.93[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6580651	0.98[EUR][1000 genomes]
rs6580656	0.80[CEU][hapmap]
rs7132668	0.92[EUR][1000 genomes]
rs7133249	0.92[EUR][1000 genomes]
rs726354	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs72644841	0.94[EUR][1000 genomes]
rs72644842	0.98[EUR][1000 genomes]
rs72644843	0.92[EUR][1000 genomes]
rs72644844	0.92[EUR][1000 genomes]
rs72644845	0.81[EUR][1000 genomes]
rs72644847	0.83[EUR][1000 genomes]
rs7296913	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs7305954	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs7312326	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs757556	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs7957764	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959755	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs7963934	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs7967762	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7969749	0.87[CEU][hapmap]
rs7971668	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs879242	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs9651993	0.94[EUR][1000 genomes]
rs9805048	0.82[CEU][hapmap];0.93[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
rs7310579	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48420400-48429000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:48422000-48429000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:48422800-48438800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:48423800-48430600	Weak transcription	Fetal Kidney	kidney
5	chr12:48423800-48430600	Weak transcription	Right Atrium	heart
6	chr12:48424000-48429000	Weak transcription	Fetal Lung	lung
7	chr12:48424200-48430000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:48424200-48430200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48424400-48430600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:48424600-48429800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:48424800-48437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:48425000-48431000	Weak transcription	Fetal Heart	heart
13	chr12:48425200-48431000	Weak transcription	Fetal Intestine Large	intestine
14	chr12:48425400-48429000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:48425400-48430800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:48425600-48429000	Weak transcription	HMEC	breast
17	chr12:48425600-48430600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:48426800-48428600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:48427000-48430600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:48427400-48427600	Enhancers	Right Ventricle	heart
21	chr12:48427400-48428200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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