Variant report

Variant	rs3131543
Chromosome Location	chr1:221554800-221554801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10489951	0.89[ASN][1000 genomes]
rs10735499	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11118705	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118706	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084980	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3123736	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131542	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41349545	0.86[ASN][1000 genomes]
rs4517352	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4609434	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846344	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6679291	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72744259	0.82[ASN][1000 genomes]
rs72744270	0.89[ASN][1000 genomes]
rs72746037	0.96[ASN][1000 genomes]
rs72746040	0.96[ASN][1000 genomes]
rs72746060	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72746061	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72746075	0.96[ASN][1000 genomes]
rs731372	0.96[ASN][1000 genomes]
rs7548451	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7552266	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221553200-221555400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:221554200-221556400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:221554200-221556400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:221554400-221554800	Enhancers	NHDF-Ad	bronchial
5	chr1:221554400-221555000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:221554400-221556200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:221554400-221556200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:221554400-221556200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:221554600-221555400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:221554600-221555800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:221554600-221555800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:221554800-221555000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:221554800-221555400	Flanking Active TSS	NHDF-Ad	bronchial

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