Variant report

Variant	rs72941393
Chromosome Location	chr1:79700624-79700625
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1487546	0.90[EUR][1000 genomes]
rs17102873	0.90[EUR][1000 genomes]
rs17102911	0.90[EUR][1000 genomes]
rs17102985	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102986	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102992	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102993	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103009	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103020	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103022	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41508249	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56753769	0.82[EUR][1000 genomes]
rs61583073	0.86[EUR][1000 genomes]
rs72939495	0.86[EUR][1000 genomes]
rs72939496	0.90[EUR][1000 genomes]
rs72939499	0.90[EUR][1000 genomes]
rs72941308	0.90[EUR][1000 genomes]
rs72941313	0.90[EUR][1000 genomes]
rs72941322	0.90[EUR][1000 genomes]
rs72941329	0.90[EUR][1000 genomes]
rs72941379	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72941401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72941402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943030	1.00[EUR][1000 genomes]
rs72943031	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943040	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943045	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943047	1.00[EUR][1000 genomes]
rs72943048	1.00[EUR][1000 genomes]
rs72943067	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943081	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72945028	0.86[EUR][1000 genomes]
rs72945033	0.86[EUR][1000 genomes]
rs7553496	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830326	chr1:79573379-79735667	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv871182	chr1:79614989-79822735	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv999471	chr1:79650363-79774433	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79697800-79701000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:79698400-79705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:79698800-79700800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:79700000-79702000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:79700200-79701000	Enhancers	HUVEC	blood vessel
6	chr1:79700200-79701800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:79700400-79700800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:79700400-79701200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:79700600-79701000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:79700600-79701000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:79700600-79701000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:79700600-79702000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:79700600-79702200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:79700600-79702400	Enhancers	HUES64 Cell Line	embryonic stem cell

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