Variant report

Variant	rs2879548
Chromosome Location	chr10:52849729-52849730
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52845255..52847999-chr10:52848856..52851821,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10218858	0.85[EUR][1000 genomes]
rs10995547	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs10996321	1.00[CHB][hapmap]
rs12573698	0.96[EUR][1000 genomes]
rs16913603	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16913709	0.96[EUR][1000 genomes]
rs2339676	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2339677	0.96[EUR][1000 genomes]
rs2879546	0.85[EUR][1000 genomes]
rs4542348	0.85[EUR][1000 genomes]
rs5011544	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[EUR][1000 genomes]
rs58268608	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58296033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59098547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73322683	1.00[EUR][1000 genomes]
rs73323803	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333876	1.00[ASN][1000 genomes]
rs73333902	1.00[ASN][1000 genomes]
rs73338483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338499	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338502	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340469	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340484	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7476372	0.85[EUR][1000 genomes]
rs7476747	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[EUR][1000 genomes]
rs9414804	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831873	chr10:52710610-52899540	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv895394	chr10:52793177-52866503	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1036645	chr10:52804961-53159076	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52840400-52852200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr10:52843600-52856200	Weak transcription	Aorta	Aorta
3	chr10:52844000-52851800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr10:52844000-52852200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr10:52844000-52877200	Weak transcription	Fetal Stomach	stomach
6	chr10:52845400-52849800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:52849400-52853200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr10:52849600-52850200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:52849600-52850200	Enhancers	Psoas Muscle	Psoas
10	chr10:52849600-52850200	Enhancers	NHDF-Ad	bronchial
11	chr10:52849600-52850400	Enhancers	Colon Smooth Muscle	Colon
12	chr10:52849600-52853800	Enhancers	Skeletal Muscle Female	skeletal muscle

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