Variant report

Variant	rs7196219
Chromosome Location	chr16:80075396-80075397
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12051191	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12597421	0.92[EUR][1000 genomes]
rs12597942	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4286117	0.94[EUR][1000 genomes]
rs4441287	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4461085	0.96[EUR][1000 genomes]
rs4888065	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4888066	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4889071	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4889072	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4889073	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4889077	1.00[MEX][hapmap]
rs6564725	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7194550	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80072200-80076000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:80072800-80085200	Weak transcription	Esophagus	oesophagus
3	chr16:80073200-80078000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:80073600-80075600	Enhancers	HMEC	breast
5	chr16:80073800-80075600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:80074200-80075600	Enhancers	A549	lung
7	chr16:80074200-80076000	Enhancers	NHEK	skin
8	chr16:80074200-80076800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr16:80074400-80075800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr16:80074400-80076400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:80075000-80075800	Enhancers	NH-A	brain
12	chr16:80075000-80079600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:80075200-80075800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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Input of quick search could be:

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

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