Variant report

Variant	rs12465307
Chromosome Location	chr2:209981267-209981268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10202661	0.91[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1079127	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10932285	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12466351	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466359	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470715	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1439746	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1439748	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1522190	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522204	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522205	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842384	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16842388	0.94[ASN][1000 genomes]
rs16842403	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16842470	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16842488	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16842496	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17738719	0.88[ASN][1000 genomes]
rs1963242	0.88[ASN][1000 genomes]
rs3890029	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3910599	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3914940	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3919699	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4075133	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4617987	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55876900	0.82[ASN][1000 genomes]
rs56185941	0.82[ASN][1000 genomes]
rs56289357	0.82[ASN][1000 genomes]
rs56318207	0.82[ASN][1000 genomes]
rs57265106	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62212901	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62212905	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62212943	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62212944	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6715032	0.88[ASN][1000 genomes]
rs7425577	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv584307	chr2:209966941-210024938	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209978400-209982000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:209980800-209981600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:209981000-209982400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:209981200-209982200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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