Variant report

Variant	rs12597198
Chromosome Location	chr16:80080434-80080435
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28495719	0.94[EUR][1000 genomes]
rs28499095	0.93[EUR][1000 genomes]
rs28705163	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4077493	0.89[EUR][1000 genomes]
rs4077494	0.91[EUR][1000 genomes]
rs4078328	0.93[CEU][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs4243200	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4362404	0.91[EUR][1000 genomes]
rs4441292	0.90[EUR][1000 genomes]
rs4470161	1.00[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]
rs4533299	1.00[GIH][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]
rs4889070	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57575678	0.91[EUR][1000 genomes]
rs8053986	0.91[EUR][1000 genomes]
rs8057460	0.83[AMR][1000 genomes];0.93[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	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80072800-80085200	Weak transcription	Esophagus	oesophagus
2	chr16:80076400-80081200	Enhancers	Ovary	ovary
3	chr16:80079200-80081000	Enhancers	Fetal Stomach	stomach
4	chr16:80079200-80081400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:80079400-80081200	Enhancers	Fetal Lung	lung
6	chr16:80079600-80080600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:80079600-80080800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:80079600-80080800	Enhancers	Fetal Intestine Large	intestine
9	chr16:80079800-80081000	Enhancers	Fetal Intestine Small	intestine
10	chr16:80079800-80081000	Enhancers	Right Atrium	heart
11	chr16:80079800-80081600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:80080000-80080600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr16:80080000-80080800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:80080200-80080600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:80080200-80080600	Enhancers	Stomach Smooth Muscle	stomach
16	chr16:80080200-80080800	Enhancers	Brain Germinal Matrix	brain
17	chr16:80080200-80080800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr16:80080400-80081000	Enhancers	hESC Derived CD56+ Mesoderm 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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