Variant report

Variant	rs1035374
Chromosome Location	chr5:167258048-167258049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12153261	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12519816	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12521018	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1421989	0.99[ASN][1000 genomes]
rs1421990	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1549151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2052466	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4869075	0.99[ASN][1000 genomes]
rs4869076	0.89[ASN][1000 genomes]
rs55698578	0.95[ASN][1000 genomes]
rs6859905	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72835612	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73388370	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7714210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167248000-167258400	Weak transcription	Aorta	Aorta
2	chr5:167248600-167270000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:167251400-167262200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:167251800-167299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:167252600-167276000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:167255200-167262400	Weak transcription	HSMM	muscle
7	chr5:167255400-167264800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:167255600-167262200	Weak transcription	HMEC	breast
9	chr5:167256200-167261000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:167257000-167258800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:167257000-167258800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:167257200-167258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:167257200-167259200	Weak transcription	NHEK	skin
14	chr5:167257800-167258400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:167258000-167258200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:167258000-167259400	Enhancers	Fetal Kidney	kidney
17	chr5:167258000-167259600	Enhancers	Fetal Lung	lung

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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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