Variant report

Variant	rs61993952
Chromosome Location	chr14:20739527-20739528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20738427..20740825-chr14:20746566..20748519,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC5-3	chr14:20738080-20742354	ucscGeneNc_uc001vzu_1

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1953550	1.00[AFR][1000 genomes]
rs2318863	1.00[AFR][1000 genomes]
rs3093868	1.00[AFR][1000 genomes]
rs3093871	1.00[AFR][1000 genomes]
rs3093883	1.00[AFR][1000 genomes]
rs3093894	1.00[AFR][1000 genomes]
rs3093926	1.00[AFR][1000 genomes]
rs45583431	1.00[AFR][1000 genomes]
rs45622542	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs55684917	0.97[EUR][1000 genomes]
rs56383558	1.00[AFR][1000 genomes]
rs61993950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61993951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61993953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61993956	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61993957	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61993958	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61993959	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61995461	1.00[AFR][1000 genomes]
rs61995462	0.82[AMR][1000 genomes]
rs61995463	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61995493	0.82[AMR][1000 genomes]
rs61995494	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61995495	1.00[AFR][1000 genomes]
rs61995497	1.00[AFR][1000 genomes]
rs61995498	1.00[AFR][1000 genomes]
rs61995503	1.00[AFR][1000 genomes]
rs61995504	1.00[AFR][1000 genomes]
rs61995508	1.00[AFR][1000 genomes]
rs61995509	1.00[AFR][1000 genomes]
rs61995513	1.00[AFR][1000 genomes]
rs61995534	1.00[AFR][1000 genomes]
rs61995536	1.00[AFR][1000 genomes]
rs61995537	1.00[AFR][1000 genomes]
rs61995540	1.00[AFR][1000 genomes]
rs61995542	1.00[AFR][1000 genomes]
rs61995544	1.00[AFR][1000 genomes]
rs61995545	1.00[AFR][1000 genomes]
rs61995546	1.00[AFR][1000 genomes]
rs72671246	1.00[AFR][1000 genomes]
rs72671250	1.00[AFR][1000 genomes]
rs8010392	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901299	chr14:20191869-20756887	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
4	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
7	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
8	nsv1055102	chr14:20687007-20743269	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1052883	chr14:20689721-20743269	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv869984	chr14:20732655-20776216	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20719400-20741000	Weak transcription	Aorta	Aorta
2	chr14:20722600-20755000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:20724400-20755200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:20725400-20748200	Weak transcription	Ovary	ovary
5	chr14:20731200-20743200	Weak transcription	Psoas Muscle	Psoas
6	chr14:20731400-20755600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:20731400-20757000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:20731600-20754400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:20739200-20739600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:20739400-20743600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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