Variant report

Variant	rs12521018
Chromosome Location	chr5:167266430-167266431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1035374	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12153261	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12519816	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1364368	0.84[JPT][hapmap]
rs1421989	0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1421990	1.00[CEU][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1549151	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1549152	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2052466	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4869075	0.85[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4869076	0.85[ASN][1000 genomes]
rs55698578	0.98[ASN][1000 genomes]
rs6859905	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72835612	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73388370	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7714210	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7714651	0.84[CEU][hapmap]
rs9647570	1.00[LWK][hapmap]

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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167248600-167270000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:167251800-167299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:167252600-167276000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:167262800-167267600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:167262800-167270600	Weak transcription	HSMM	muscle
6	chr5:167263200-167271200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:167264200-167269600	Weak transcription	Aorta	Aorta
8	chr5:167265200-167266600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:167265400-167266600	Enhancers	HMEC	breast
10	chr5:167265400-167266800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:167265800-167266600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:167266000-167266600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:167266200-167266600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:167266200-167266600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:167266400-167267600	Enhancers	NHEK	skin

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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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