Variant report

Variant	rs1462051
Chromosome Location	chr16:82880341-82880342
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11150496	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11150498	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11150500	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11641036	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12149890	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12596919	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12918477	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12929586	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1381500	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1585533	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1903618	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs192598	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs192599	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1947715	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1991024	0.89[ASN][1000 genomes]
rs1991025	0.89[ASN][1000 genomes]
rs2113137	0.89[ASN][1000 genomes]
rs2113138	0.89[ASN][1000 genomes]
rs2194283	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2194285	0.81[ASN][1000 genomes]
rs2549141	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2615127	0.90[ASN][1000 genomes]
rs2615128	0.90[ASN][1000 genomes]
rs2615133	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs286666	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs286667	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs286668	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs286674	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs286676	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs286678	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs286680	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs286682	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs286684	0.82[EUR][1000 genomes]
rs286685	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs286687	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3911751	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4782734	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4783290	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4783291	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62035176	0.87[EUR][1000 genomes]
rs918659	0.89[ASN][1000 genomes]
rs9935163	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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:13 , 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	chr16:82875400-82880800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:82876800-82892400	Weak transcription	HSMM	muscle
5	chr16:82877000-82881400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr16:82879200-82886000	Weak transcription	Right Ventricle	heart
7	chr16:82879200-82907000	Weak transcription	Left Ventricle	heart
8	chr16:82879400-82891400	Weak transcription	Fetal Muscle Leg	muscle
9	chr16:82879600-82880800	Enhancers	NHEK	skin
10	chr16:82879800-82880800	Weak transcription	Aorta	Aorta
11	chr16:82880000-82880600	Weak transcription	Psoas Muscle	Psoas
12	chr16:82880000-82880800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:82880200-82880600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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