Variant report

Variant	rs11986029
Chromosome Location	chr8:54771886-54771887
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11990964	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs16919597	0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919618	0.86[YRI][hapmap]
rs41272421	1.00[EUR][1000 genomes]
rs60296248	1.00[EUR][1000 genomes]
rs60515635	1.00[EUR][1000 genomes]
rs73680327	1.00[EUR][1000 genomes]
rs73680328	1.00[EUR][1000 genomes]
rs73680329	1.00[EUR][1000 genomes]
rs73680330	1.00[EUR][1000 genomes]
rs73680331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54759200-54780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:54768000-54772600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:54771000-54772000	Enhancers	Dnd41	blood
4	chr8:54771200-54772000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:54771400-54772000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:54771600-54773000	Weak transcription	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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