Variant report

Variant	rs12617947
Chromosome Location	chr2:151890730-151890731
allele	A/G
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:39)

rs_ID	r²[population]
rs12612667	1.00[AFR][1000 genomes]
rs12613613	1.00[AFR][1000 genomes]
rs12619845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12620371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12623677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16828997	1.00[AFR][1000 genomes]
rs16829081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16829215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16829234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41478047	1.00[AFR][1000 genomes]
rs62167120	1.00[AFR][1000 genomes]
rs62167121	1.00[AFR][1000 genomes]
rs62167165	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62167166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62167167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62167168	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62167191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62168566	1.00[AFR][1000 genomes]
rs62168569	1.00[AFR][1000 genomes]
rs62168572	1.00[AFR][1000 genomes]
rs62168573	1.00[AFR][1000 genomes]
rs62168579	1.00[AFR][1000 genomes]
rs62168581	1.00[AFR][1000 genomes]
rs62168583	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs62168591	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62168593	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62168596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62168623	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62168625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62168631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62168636	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62168641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62168642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62169389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62169390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62169391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62169392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62169395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62169396	1.00[AFR][1000 genomes];1.00[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151888400-151890800	Enhancers	NHDF-Ad	bronchial
2	chr2:151888400-151891200	Enhancers	Fetal Stomach	stomach
3	chr2:151888600-151890800	Enhancers	Fetal Brain Female	brain
4	chr2:151888600-151890800	Enhancers	NHLF	lung
5	chr2:151888800-151891000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:151889000-151890800	Enhancers	Fetal Lung	lung
7	chr2:151890400-151890800	Flanking Active TSS	Fetal Brain Male	brain
8	chr2:151890400-151891200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:151890400-151893800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:151890400-151896400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:151890600-151899600	Weak transcription	Osteobl	bone

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