Variant report

Variant	rs1093299
Chromosome Location	chr12:117936632-117936633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1068929	0.81[ASN][1000 genomes]
rs1093288	0.82[EUR][1000 genomes]
rs1093290	0.93[EUR][1000 genomes]
rs1093301	0.80[ASN][1000 genomes]
rs1093302	0.93[EUR][1000 genomes]
rs1093305	0.81[EUR][1000 genomes]
rs2936838	0.86[ASN][1000 genomes]
rs2944722	0.90[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	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1045538	chr12:117929400-117963331	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117934200-117937400	Weak transcription	Fetal Stomach	stomach
2	chr12:117934200-117937600	Weak transcription	Lung	lung
3	chr12:117935400-117941400	Enhancers	Liver	Liver
4	chr12:117936000-117937800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:117936000-117940200	Enhancers	Pancreas	Pancrea
6	chr12:117936400-117937400	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:117936400-117937600	Weak transcription	Gastric	stomach
8	chr12:117936600-117937200	Enhancers	HepG2	liver
9	chr12:117936600-117940000	Enhancers	A549	lung

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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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