Variant report

Variant	rs9935254
Chromosome Location	chr16:82882283-82882284
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10871437	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11150494	0.81[EUR][1000 genomes]
rs11150495	0.80[EUR][1000 genomes]
rs11150523	0.82[ASN][1000 genomes]
rs11640449	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12148992	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12919606	0.82[ASN][1000 genomes]
rs12923557	0.82[ASN][1000 genomes]
rs13331478	0.82[ASN][1000 genomes]
rs16958850	0.82[ASN][1000 genomes]
rs16958858	0.82[ASN][1000 genomes]
rs17673003	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17675094	0.82[ASN][1000 genomes]
rs1991028	0.82[ASN][1000 genomes]
rs28417188	0.82[ASN][1000 genomes]
rs28433236	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28435993	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661446	0.82[ASN][1000 genomes]
rs28701624	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34482883	0.82[ASN][1000 genomes]
rs35775260	0.82[ASN][1000 genomes]
rs4782737	0.82[ASN][1000 genomes]
rs4783299	0.82[ASN][1000 genomes]
rs4783300	0.82[ASN][1000 genomes]
rs62035221	0.82[ASN][1000 genomes]
rs72807823	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72807825	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72807836	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9319575	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9926654	0.82[ASN][1000 genomes]
rs9930233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9933074	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9933346	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9933458	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9933518	0.81[EUR][1000 genomes]
rs9936335	0.82[ASN][1000 genomes]
rs9936407	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9938031	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9940251	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9941327	0.82[ASN][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	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2830385	chr16:82841335-82950413	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82848200-82898200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:82863200-82892800	Weak transcription	HSMMtube	muscle
3	chr16:82876800-82892400	Weak transcription	HSMM	muscle
4	chr16:82879200-82886000	Weak transcription	Right Ventricle	heart
5	chr16:82879200-82907000	Weak transcription	Left Ventricle	heart
6	chr16:82879400-82891400	Weak transcription	Fetal Muscle Leg	muscle
7	chr16:82880800-82889200	Weak transcription	Psoas Muscle	Psoas
8	chr16:82880800-82892000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:82880800-82892000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:82880800-82893200	Weak transcription	NHEK	skin
11	chr16:82881000-82882800	Enhancers	Fetal Heart	heart
12	chr16:82881400-82886000	Weak transcription	Aorta	Aorta
13	chr16:82881400-82892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:82881400-82897600	Weak transcription	HMEC	breast
15	chr16:82881600-82882400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:82881600-82882600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:82882000-82892200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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