Variant report

Variant	rs7275116
Chromosome Location	chr20:14215678-14215679
allele	A/T
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:29)

rs_ID	r²[population]
rs1040825	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs16994432	0.90[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1980625	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs204607	1.00[CEU][hapmap]
rs204609	1.00[CEU][hapmap]
rs204644	0.91[CEU][hapmap]
rs2301024	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs4813153	0.84[JPT][hapmap]
rs4813155	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs4814285	0.85[JPT][hapmap]
rs57031259	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595247	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6033934	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6042658	0.83[EUR][1000 genomes]
rs6074712	0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs6079372	0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs6079381	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6079383	0.86[EUR][1000 genomes]
rs60877902	0.86[EUR][1000 genomes]
rs6105232	0.86[ASN][1000 genomes]
rs6110214	0.85[ASN][1000 genomes]
rs6514496	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7265529	0.85[JPT][hapmap]
rs7265754	0.84[JPT][hapmap]
rs7268327	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7269177	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73264825	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73264830	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8124679	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1057486	chr20:14077828-14469129	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv532514	chr20:14097780-14288315	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1066235	chr20:14173771-14389050	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv458872	chr20:14189779-14317390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470540	chr20:14189779-14317390	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv585439	chr20:14189779-14317390	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1066105	chr20:14201909-14272115	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14214600-14216400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr20:14214800-14216600	Enhancers	HMEC	breast
3	chr20:14214800-14217000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr20:14215000-14216200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr20:14215000-14216200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:14215000-14216600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:14215000-14216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:14215200-14215800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr20:14215200-14216000	Enhancers	NH-A	brain
10	chr20:14215200-14216200	Enhancers	Rectal Smooth Muscle	rectum
11	chr20:14215200-14216200	Enhancers	HSMMtube	muscle
12	chr20:14215200-14216200	Enhancers	NHDF-Ad	bronchial
13	chr20:14215200-14216400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr20:14215200-14216400	Enhancers	A549	lung
15	chr20:14215200-14216600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:14215200-14216600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr20:14215200-14216600	Enhancers	Fetal Heart	heart
18	chr20:14215200-14216600	Enhancers	HSMM	muscle
19	chr20:14215200-14216600	Enhancers	NHEK	skin
20	chr20:14215200-14216800	Enhancers	Hela-S3	cervix
21	chr20:14215400-14216000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr20:14215400-14216200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr20:14215400-14216200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr20:14215400-14216600	Enhancers	NHLF	lung

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