Variant report

Variant	rs12402675
Chromosome Location	chr1:57118432-57118433
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10749709	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889001	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10889002	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889003	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11206870	0.89[ASN][1000 genomes]
rs11206873	0.87[ASN][1000 genomes]
rs11206875	0.91[ASN][1000 genomes]
rs11206879	0.92[ASN][1000 genomes]
rs11206891	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12119770	0.82[ASN][1000 genomes]
rs12129602	0.84[ASN][1000 genomes]
rs12134054	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12138351	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12405291	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12756787	0.89[ASN][1000 genomes]
rs12757089	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12759063	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2051040	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2143749	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2746342	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2746344	0.84[EUR][1000 genomes]
rs2796542	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4451572	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4561065	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4912408	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4912411	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6588645	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6588646	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6588647	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6663750	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6676950	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6688242	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6688263	0.87[AMR][1000 genomes];0.98[EUR][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57112000-57119800	Weak transcription	HUVEC	blood vessel
2	chr1:57112600-57121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:57112600-57121800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:57113000-57122000	Weak transcription	Fetal Kidney	kidney
5	chr1:57116400-57121200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:57116600-57121200	Weak transcription	HepG2	liver
7	chr1:57118200-57120400	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr1:57118400-57118600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr1:57118400-57118800	Weak transcription	Fetal Heart	heart

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