Variant report

Variant	rs1864994
Chromosome Location	chr5:147298827-147298828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10463392	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10477357	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11168004	0.80[EUR][1000 genomes]
rs11168005	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12523585	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12523630	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12651889	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1368409	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1368410	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1368411	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1432976	0.98[ASN][1000 genomes]
rs1432977	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1432978	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1465404	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1862330	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1864997	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2098649	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2400440	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2400441	0.86[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4447974	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4591739	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56252414	0.87[ASN][1000 genomes]
rs56910665	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60172148	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62379461	0.98[ASN][1000 genomes]
rs6580509	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs6580510	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6867813	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6873510	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6877693	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs6894752	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs721570	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7709676	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.98[ASN][1000 genomes]
rs7716784	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7731860	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7736073	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv525042	chr5:147298497-147302214	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
7	nsv528013	chr5:147298497-147302941	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1864994	EEF1GP2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147292400-147300400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:147297400-147299000	Enhancers	NHEK	skin
3	chr5:147297600-147299400	Enhancers	Hela-S3	cervix
4	chr5:147297800-147299400	Enhancers	NH-A	brain
5	chr5:147298000-147299600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:147298000-147300200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:147298200-147300200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:147298400-147299800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:147298400-147300400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:147298800-147299400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:147298800-147300600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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