Variant report

Variant	rs1421989
Chromosome Location	chr5:167258672-167258673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1035374	0.99[ASN][1000 genomes]
rs12153261	0.91[ASN][1000 genomes]
rs12519816	0.98[ASN][1000 genomes]
rs12521018	0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1364368	0.84[JPT][hapmap]
rs1421990	0.84[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1549151	0.99[ASN][1000 genomes]
rs1549152	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2052466	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs4869075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869076	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55698578	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6555770	0.82[CEU][hapmap]
rs6859905	0.87[ASN][1000 genomes]
rs73388370	0.91[ASN][1000 genomes]
rs7714210	0.94[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	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:14 , 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	chr5:167251400-167262200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:167251800-167299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:167252600-167276000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:167255200-167262400	Weak transcription	HSMM	muscle
6	chr5:167255400-167264800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:167255600-167262200	Weak transcription	HMEC	breast
8	chr5:167256200-167261000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:167257000-167258800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:167257000-167258800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:167257200-167259200	Weak transcription	NHEK	skin
12	chr5:167258000-167259400	Enhancers	Fetal Kidney	kidney
13	chr5:167258000-167259600	Enhancers	Fetal Lung	lung
14	chr5:167258600-167260400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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