Variant report

Variant	rs7300502
Chromosome Location	chr12:47938931-47938932
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47930834..47933426-chr12:47936717..47939466,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11168152	1.00[ASN][1000 genomes]
rs11168153	1.00[ASN][1000 genomes]
rs11168154	1.00[ASN][1000 genomes]
rs12299011	1.00[ASN][1000 genomes]
rs12302660	1.00[ASN][1000 genomes]
rs12302929	1.00[ASN][1000 genomes]
rs12302930	1.00[ASN][1000 genomes]
rs12304191	1.00[ASN][1000 genomes]
rs12304253	1.00[ASN][1000 genomes]
rs12304441	1.00[ASN][1000 genomes]
rs12309777	1.00[ASN][1000 genomes]
rs12311497	1.00[ASN][1000 genomes]
rs12311828	1.00[ASN][1000 genomes]
rs12314293	1.00[ASN][1000 genomes]
rs12316410	1.00[ASN][1000 genomes]
rs12316952	1.00[ASN][1000 genomes]
rs17801694	1.00[ASN][1000 genomes]
rs56095677	1.00[ASN][1000 genomes]
rs58366817	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61918093	0.87[EUR][1000 genomes]
rs61918094	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61918095	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61918096	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61918128	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61918129	1.00[ASN][1000 genomes]
rs61918130	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61918132	1.00[ASN][1000 genomes]
rs61918133	1.00[ASN][1000 genomes]
rs6580628	1.00[ASN][1000 genomes]
rs7137385	1.00[ASN][1000 genomes]
rs7137539	1.00[ASN][1000 genomes]
rs7296656	1.00[ASN][1000 genomes]
rs7297459	1.00[ASN][1000 genomes]
rs7298372	1.00[ASN][1000 genomes]
rs7300647	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300656	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306799	1.00[ASN][1000 genomes]
rs7309928	1.00[ASN][1000 genomes]
rs73109412	0.97[EUR][1000 genomes]
rs73109421	1.00[ASN][1000 genomes]
rs73109463	1.00[ASN][1000 genomes]
rs7313743	1.00[ASN][1000 genomes]
rs7315127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757354	1.00[ASN][1000 genomes]
rs7954402	1.00[ASN][1000 genomes]
rs7955397	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958900	1.00[ASN][1000 genomes]
rs7958908	1.00[ASN][1000 genomes]
rs7959019	1.00[ASN][1000 genomes]
rs7961561	1.00[ASN][1000 genomes]
rs7962104	1.00[ASN][1000 genomes]
rs7962252	1.00[ASN][1000 genomes]
rs7965280	0.87[AMR][1000 genomes]
rs7969833	0.81[EUR][1000 genomes]
rs7970593	1.00[ASN][1000 genomes]
rs7970620	1.00[ASN][1000 genomes]
rs7970744	1.00[ASN][1000 genomes]
rs7970763	1.00[ASN][1000 genomes]
rs7970861	1.00[ASN][1000 genomes]
rs7974013	1.00[ASN][1000 genomes]
rs7976629	1.00[ASN][1000 genomes]
rs7976992	1.00[ASN][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:2 , 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

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