Variant report

Variant	rs4926918
Chromosome Location	chr1:47603926-47603927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10789500	0.85[EUR][1000 genomes]
rs10789501	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10789503	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10890460	0.82[EUR][1000 genomes]
rs10890462	0.82[EUR][1000 genomes]
rs10890464	0.82[EUR][1000 genomes]
rs10890465	0.82[EUR][1000 genomes]
rs10890466	0.83[EUR][1000 genomes]
rs10890467	0.83[EUR][1000 genomes]
rs10890468	0.85[EUR][1000 genomes]
rs10890470	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1110425	0.81[EUR][1000 genomes]
rs11211450	0.82[EUR][1000 genomes]
rs11211454	0.81[EUR][1000 genomes]
rs11211457	0.82[EUR][1000 genomes]
rs11211459	0.82[EUR][1000 genomes]
rs11211463	0.82[EUR][1000 genomes]
rs11211464	0.88[EUR][1000 genomes]
rs11211471	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11211472	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211475	0.85[EUR][1000 genomes]
rs12037014	0.81[EUR][1000 genomes]
rs12042073	0.83[EUR][1000 genomes]
rs12046348	0.83[EUR][1000 genomes]
rs12046525	0.84[EUR][1000 genomes]
rs12124648	0.83[EUR][1000 genomes]
rs12734327	0.82[EUR][1000 genomes]
rs1847222	0.82[EUR][1000 genomes]
rs1847223	0.82[EUR][1000 genomes]
rs1847224	0.82[EUR][1000 genomes]
rs1967756	0.81[EUR][1000 genomes]
rs1967757	0.82[EUR][1000 genomes]
rs2056899	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2208772	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2224622	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2742079	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2798352	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2798356	0.88[EUR][1000 genomes]
rs2821082	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28462300	0.82[EUR][1000 genomes]
rs28796303	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3117713	0.82[EUR][1000 genomes]
rs3850876	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4314923	0.81[EUR][1000 genomes]
rs4926785	0.81[EUR][1000 genomes]
rs4926786	0.81[EUR][1000 genomes]
rs4926787	0.81[EUR][1000 genomes]
rs4926788	0.81[EUR][1000 genomes]
rs4926789	0.81[EUR][1000 genomes]
rs4926791	0.81[EUR][1000 genomes]
rs4926792	0.81[EUR][1000 genomes]
rs4926793	0.81[EUR][1000 genomes]
rs4926797	0.81[EUR][1000 genomes]
rs4926804	0.81[EUR][1000 genomes]
rs4926805	0.80[EUR][1000 genomes]
rs4926809	0.81[EUR][1000 genomes]
rs4926826	0.82[EUR][1000 genomes]
rs4926869	0.83[EUR][1000 genomes]
rs6588388	0.84[EUR][1000 genomes]
rs6664392	0.82[EUR][1000 genomes]
rs6664496	0.82[EUR][1000 genomes]
rs6675902	0.81[EUR][1000 genomes]
rs6690005	0.81[EUR][1000 genomes]
rs6693145	0.81[EUR][1000 genomes]
rs6701611	0.81[EUR][1000 genomes]
rs7519903	0.81[EUR][1000 genomes]
rs7522639	0.83[EUR][1000 genomes]
rs7526674	0.82[EUR][1000 genomes]
rs7540264	0.81[EUR][1000 genomes]
rs7547893	0.80[EUR][1000 genomes]
rs760440	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs760441	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs760442	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs911903	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911909	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9633421	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv870705	chr1:47533705-47620126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871010	chr1:47533705-47637999	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870899	chr1:47548974-47637999	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv945929	chr1:47578751-47617495	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47596400-47641000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:47603200-47604400	Active TSS	Liver	Liver
3	chr1:47603600-47604200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:47603600-47604800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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