Variant report

Variant	rs12052219
Chromosome Location	chr2:30956090-30956091
allele	A/G
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]
rs12618680	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12986790	0.90[CEU][hapmap];0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13021296	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17041364	0.84[ASN][1000 genomes]
rs1967561	0.86[CHB][hapmap]
rs2011965	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2253464	0.86[CHB][hapmap]
rs2609942	0.82[CHB][hapmap]
rs34079417	0.86[AFR][1000 genomes]
rs35481680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952177	0.90[AMR][1000 genomes]
rs6711743	0.84[AFR][1000 genomes]
rs7601114	0.91[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9679386	0.84[AFR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv873770	chr2:30952987-30984850	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30940600-30969600	Weak transcription	Stomach Mucosa	stomach
2	chr2:30953600-30965200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:30954000-30965400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:30955400-30957200	Enhancers	Fetal Intestine Small	intestine
5	chr2:30955400-30959400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:30956000-30964000	Weak transcription	Gastric	stomach

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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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