Variant report

Variant	rs7969833
Chromosome Location	chr12:47939986-47939987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47935247..47938563-chr12:47939699..47941395,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11168152	0.92[EUR][1000 genomes]
rs11168153	0.92[EUR][1000 genomes]
rs11168154	0.92[EUR][1000 genomes]
rs12299011	0.92[EUR][1000 genomes]
rs12302660	0.92[EUR][1000 genomes]
rs12302929	0.89[EUR][1000 genomes]
rs12302930	0.89[EUR][1000 genomes]
rs12304191	0.92[EUR][1000 genomes]
rs12304253	0.92[EUR][1000 genomes]
rs12304441	0.92[EUR][1000 genomes]
rs12309777	0.92[EUR][1000 genomes]
rs12311497	0.87[EUR][1000 genomes]
rs12311828	0.86[EUR][1000 genomes]
rs12314293	0.92[EUR][1000 genomes]
rs12316410	0.92[EUR][1000 genomes]
rs12316952	0.92[EUR][1000 genomes]
rs17801694	0.81[EUR][1000 genomes]
rs56095677	0.92[EUR][1000 genomes]
rs61918094	0.84[EUR][1000 genomes]
rs61918095	0.84[EUR][1000 genomes]
rs61918096	0.84[EUR][1000 genomes]
rs61918128	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61918129	0.83[AMR][1000 genomes]
rs61918130	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61918132	0.92[EUR][1000 genomes]
rs61918133	0.92[EUR][1000 genomes]
rs6580628	0.92[EUR][1000 genomes]
rs7137385	0.92[EUR][1000 genomes]
rs7137539	0.92[EUR][1000 genomes]
rs7296656	0.92[EUR][1000 genomes]
rs7297459	0.92[EUR][1000 genomes]
rs7298372	0.92[EUR][1000 genomes]
rs7300502	0.81[EUR][1000 genomes]
rs7300647	0.81[EUR][1000 genomes]
rs7300656	0.81[EUR][1000 genomes]
rs7306799	0.92[EUR][1000 genomes]
rs7309928	0.92[EUR][1000 genomes]
rs73109412	0.84[EUR][1000 genomes]
rs73109421	0.92[EUR][1000 genomes]
rs73109463	0.92[EUR][1000 genomes]
rs7313743	0.92[EUR][1000 genomes]
rs7315127	0.81[EUR][1000 genomes]
rs757354	0.92[EUR][1000 genomes]
rs7954402	0.92[EUR][1000 genomes]
rs7955397	0.94[EUR][1000 genomes]
rs7958900	0.92[EUR][1000 genomes]
rs7958908	0.92[EUR][1000 genomes]
rs7959019	0.92[EUR][1000 genomes]
rs7961521	0.86[EUR][1000 genomes]
rs7961561	0.86[EUR][1000 genomes]
rs7962104	0.86[EUR][1000 genomes]
rs7962252	0.81[EUR][1000 genomes]
rs7970620	0.86[EUR][1000 genomes]
rs7970744	0.86[EUR][1000 genomes]
rs7970763	0.92[EUR][1000 genomes]
rs7970861	0.92[EUR][1000 genomes]
rs7974013	0.92[EUR][1000 genomes]
rs7976629	0.86[EUR][1000 genomes]
rs7976992	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv832400	chr12:47840248-48024605	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1051131	chr12:47883981-48016556	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47932200-47944800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:47938800-47942000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:47939200-47941400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:47939400-47940600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:47939400-47940800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:47939600-47940600	Enhancers	Adipose Nuclei	Adipose
7	chr12:47939800-47940200	Enhancers	GM12878-XiMat	blood

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