Variant report

Variant	rs56000978
Chromosome Location	chr5:167223804-167223805
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1023629	0.82[EUR][1000 genomes]
rs11134469	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12188727	0.82[EUR][1000 genomes]
rs1421991	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17069217	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17432815	0.94[EUR][1000 genomes]
rs17511302	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17512123	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2878866	0.94[EUR][1000 genomes]
rs55824929	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57873364	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58440562	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58847998	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59682785	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6869161	0.80[EUR][1000 genomes]
rs6874034	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6880473	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73801365	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73801390	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73801394	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73801395	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73801401	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73803207	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73803208	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73803212	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73803215	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7711527	0.94[EUR][1000 genomes]
rs7715344	0.96[EUR][1000 genomes]
rs7719191	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7721878	0.94[EUR][1000 genomes]
rs7736577	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7737377	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs918794	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs918795	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9313389	0.94[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	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167210800-167225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:167218000-167229600	Weak transcription	HSMM	muscle
3	chr5:167218200-167225000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:167219600-167225200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:167219600-167225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:167219800-167229600	Weak transcription	NH-A	brain
7	chr5:167220200-167224000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:167220200-167225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:167220200-167229600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:167220400-167229600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:167220800-167224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:167221800-167224200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:167221800-167225000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:167221800-167225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:167222000-167227200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:167222600-167224400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:167223200-167225400	Enhancers	Osteobl	bone
18	chr5:167223800-167225400	Weak transcription	Fetal Brain Male	brain
19	chr5:167223800-167226200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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