Variant report

Variant	rs8053699
Chromosome Location	chr16:83157539-83157540
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs60460047	0.94[AFR][1000 genomes]
rs61154410	0.94[AFR][1000 genomes]
rs73602296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602302	0.94[AFR][1000 genomes]
rs73604205	0.94[AFR][1000 genomes]
rs73604208	0.87[AFR][1000 genomes]
rs73604210	0.94[AFR][1000 genomes]
rs8052021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
2	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
3	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
4	nsv573386	chr16:83091463-83170417	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv833306	chr16:83113899-83298775	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv869185	chr16:83125002-83342105	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv907033	chr16:83130260-83162678	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1062989	chr16:83138449-83271119	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1060011	chr16:83151726-83194242	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83136400-83157600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:83140000-83158400	Weak transcription	HMEC	breast
3	chr16:83140200-83158400	Weak transcription	NHEK	skin
4	chr16:83147600-83157600	Weak transcription	Fetal Muscle Leg	muscle
5	chr16:83147600-83158800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:83149600-83158800	Weak transcription	HSMM	muscle
7	chr16:83149800-83159000	Weak transcription	Left Ventricle	heart
8	chr16:83150200-83158800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:83150200-83159400	Weak transcription	Aorta	Aorta
10	chr16:83150200-83178400	Weak transcription	Right Ventricle	heart
11	chr16:83151000-83159000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr16:83151000-83164800	Weak transcription	Psoas Muscle	Psoas
13	chr16:83151800-83159000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:83152000-83159000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:83152000-83159800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:83152400-83159000	Weak transcription	NH-A	brain
17	chr16:83152600-83159000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:83152800-83170400	Weak transcription	NHDF-Ad	bronchial
19	chr16:83154200-83158400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:83154200-83159200	Weak transcription	HSMMtube	muscle
21	chr16:83154600-83158600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:83155200-83158000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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