Variant report

Variant	rs1485122
Chromosome Location	chr2:151927176-151927177
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10497080	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11686669	0.83[AFR][1000 genomes]
rs12233107	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.97[LWK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12477672	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13385131	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13401764	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13414651	0.81[AFR][1000 genomes]
rs13428774	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1485121	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2046420	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55646997	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56798657	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62169063	0.81[AFR][1000 genomes]
rs6433139	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs7562818	0.87[EUR][1000 genomes]
rs7569794	0.87[ASN][1000 genomes]
rs7573397	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7585884	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151920200-151927800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:151920800-151928200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:151925000-151927800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:151926400-151927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:151926400-151928200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:151926400-151928400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:151926400-151928400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:151926400-151928400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:151926400-151928400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:151926400-151928800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:151926400-151929000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:151926600-151927200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:151926600-151927200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:151926600-151927400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:151926600-151928600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:151926800-151927800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:151926800-151927800	Weak transcription	iPS DF 6.9 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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