Variant report

Variant	rs286684
Chromosome Location	chr16:82889936-82889937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11150500	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11150502	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12149890	0.82[EUR][1000 genomes]
rs12929586	0.82[EUR][1000 genomes]
rs1462051	0.82[EUR][1000 genomes]
rs1903618	0.82[EUR][1000 genomes]
rs192598	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs192599	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1991024	0.93[AMR][1000 genomes]
rs1991025	0.93[AMR][1000 genomes]
rs2113137	0.90[AMR][1000 genomes]
rs2113138	0.93[AMR][1000 genomes]
rs2194283	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2194285	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2325690	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2549141	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2615127	0.86[AMR][1000 genomes]
rs2615128	0.91[AMR][1000 genomes]
rs2615133	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs286666	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs286667	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs286668	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs286674	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs286676	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs286678	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs286680	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs286682	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs286685	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs286687	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4782736	0.87[AMR][1000 genomes]
rs4783290	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7184056	0.80[AMR][1000 genomes]
rs7198913	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7201088	0.82[AMR][1000 genomes]
rs7498269	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8051136	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8052008	0.87[AMR][1000 genomes]
rs8053647	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs918659	0.91[AMR][1000 genomes]
rs9319576	0.87[AMR][1000 genomes]
rs9319577	0.87[AMR][1000 genomes]
rs9935163	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
6	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:20 , 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	chr16:82879200-82907000	Weak transcription	Left Ventricle	heart
5	chr16:82879400-82891400	Weak transcription	Fetal Muscle Leg	muscle
6	chr16:82880800-82892000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:82880800-82892000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:82880800-82893200	Weak transcription	NHEK	skin
9	chr16:82881400-82892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:82881400-82897600	Weak transcription	HMEC	breast
11	chr16:82882000-82892200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:82886200-82890400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr16:82886200-82917000	Weak transcription	Right Ventricle	heart
14	chr16:82886400-82898000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr16:82886400-82898600	Weak transcription	Aorta	Aorta
16	chr16:82889200-82890800	Weak transcription	NH-A	brain
17	chr16:82889600-82894000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:82889600-82894200	Weak transcription	Osteobl	bone
19	chr16:82889800-82891000	Enhancers	Psoas Muscle	Psoas
20	chr16:82889800-82900400	Weak transcription	NHDF-Ad	bronchial

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