Variant report

Variant	rs4270713
Chromosome Location	chr5:167218245-167218246
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10045595	0.92[EUR][1000 genomes]
rs10454960	0.92[EUR][1000 genomes]
rs10516038	0.88[EUR][1000 genomes]
rs11134472	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11738000	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11750131	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12651802	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12657288	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13166995	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1364368	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1424290	0.86[AFR][1000 genomes]
rs1834118	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2018599	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2337000	0.83[EUR][1000 genomes]
rs2911499	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2973664	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2973667	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4583906	0.81[AMR][1000 genomes]
rs6861976	0.85[EUR][1000 genomes]
rs6863601	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6879227	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6898256	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7703401	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3440684	chr5:167217724-167219572	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167203600-167218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167210800-167225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:167211200-167219200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:167212600-167219000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:167212800-167218800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:167214600-167219800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:167215200-167219000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:167216800-167219200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:167217600-167221200	Weak transcription	Brain Anterior Caudate	brain
10	chr5:167217800-167218600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:167217800-167218800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:167217800-167218800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:167217800-167219000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:167218000-167219000	Enhancers	Osteobl	bone
15	chr5:167218000-167219200	Weak transcription	NH-A	brain
16	chr5:167218000-167220200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:167218000-167229600	Weak transcription	HSMM	muscle
18	chr5:167218200-167221400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:167218200-167225000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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