Variant report

Variant	rs2219778
Chromosome Location	chr16:80142560-80142561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16952408	1.00[ASN][1000 genomes]
rs16952455	0.96[ASN][1000 genomes]
rs1971946	0.85[EUR][1000 genomes]
rs1971947	0.81[EUR][1000 genomes]
rs62050833	1.00[ASN][1000 genomes]
rs62050840	0.96[ASN][1000 genomes]
rs9806833	0.86[EUR][1000 genomes];0.96[ASN][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	nsv906995	chr16:80094975-80166677	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80137400-80143000	Enhancers	HMEC	breast
2	chr16:80138000-80156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:80140200-80151200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:80140600-80143200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:80141400-80142600	Enhancers	NHEK	skin
6	chr16:80141800-80142600	Enhancers	HSMM	muscle
7	chr16:80142000-80142600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr16:80142000-80142600	Enhancers	NH-A	brain
9	chr16:80142000-80142600	Enhancers	Osteobl	bone
10	chr16:80142000-80143400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	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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