Variant report

Variant	rs12328454
Chromosome Location	chr2:209949420-209949421
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10181135	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10181188	0.81[AFR][1000 genomes]
rs10199040	0.89[CEU][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs10210976	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1079125	0.82[EUR][1000 genomes]
rs13386937	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13390472	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13391253	0.89[EUR][1000 genomes]
rs1371436	0.82[EUR][1000 genomes]
rs17675648	1.00[YRI][hapmap]
rs17727631	0.82[EUR][1000 genomes]
rs1821984	0.90[EUR][1000 genomes]
rs28470777	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28628863	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72994590	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7560826	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7578250	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012184	chr2:209755847-210049331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536131	chr2:209755847-210049331	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009924	chr2:209805661-210042572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002578	chr2:209836205-210026339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv536132	chr2:209836205-210026339	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1002788	chr2:209913805-209950811	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv3139	chr2:209915318-209964719	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv508198	chr2:209935777-209950086	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
10	esv3410551	chr2:209942257-209949755	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209949000-209950000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:209949200-209949600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:209949200-209950000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:209949200-209950200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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