Variant report

Variant	rs34633334
Chromosome Location	chr2:123937931-123937932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1112020	0.90[ASN][1000 genomes]
rs1589209	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17009469	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17009474	0.96[EUR][1000 genomes]
rs35190664	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35585209	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36067069	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6751038	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7578225	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492280	chr2:123447662-123973577	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2760647	chr2:123678437-124619697	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv525131	chr2:123936217-123958889	Active TSS Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:123937400-123938000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
2	chr2:123937400-123938200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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