Variant report

Variant	rs8054750
Chromosome Location	chr16:83041378-83041379
allele	A/G
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:36)

rs_ID	r²[population]
rs56184188	0.81[ASN][1000 genomes]
rs6565098	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7203552	0.83[ASN][1000 genomes]
rs72792141	0.81[ASN][1000 genomes]
rs72792148	0.81[ASN][1000 genomes]
rs72792160	0.81[ASN][1000 genomes]
rs72792161	0.81[ASN][1000 genomes]
rs72792163	0.81[ASN][1000 genomes]
rs72792164	0.89[ASN][1000 genomes]
rs72792167	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72792168	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792170	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792172	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792173	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72794129	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794130	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794131	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794133	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794134	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794135	0.92[ASN][1000 genomes]
rs72794137	0.92[ASN][1000 genomes]
rs72794139	0.92[ASN][1000 genomes]
rs72794141	0.86[ASN][1000 genomes]
rs72794143	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794145	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794146	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794147	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794152	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794153	0.97[ASN][1000 genomes]
rs72794155	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72794156	0.97[ASN][1000 genomes]
rs72794158	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794159	0.92[EUR][1000 genomes]
rs7499717	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7499722	0.94[EUR][1000 genomes]
rs7499882	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv907029	chr16:82951179-83044665	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv907030	chr16:82959437-83044665	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1056005	chr16:82987872-83055420	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1055246	chr16:82988025-83056132	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1064172	chr16:82988932-83046695	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv522570	chr16:82988977-83044665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv573383	chr16:82988977-83044665	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv573384	chr16:82994130-83044665	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1903	chr16:83035452-83080314	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83030200-83047200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:83030200-83053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:83030600-83047000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:83036600-83046600	Weak transcription	Psoas Muscle	Psoas
5	chr16:83037000-83048800	Weak transcription	NHDF-Ad	bronchial
6	chr16:83037000-83049400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr16:83037000-83066000	Weak transcription	HSMMtube	muscle
8	chr16:83037200-83058000	Weak transcription	HSMM	muscle
9	chr16:83037400-83043800	Weak transcription	Aorta	Aorta
10	chr16:83038400-83047400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:83039200-83054000	Weak transcription	Left Ventricle	heart
12	chr16:83039400-83044400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr16:83039400-83052200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:83039400-83054000	Weak transcription	Right Ventricle	heart
15	chr16:83040200-83044600	Weak transcription	Osteobl	bone
16	chr16:83040200-83045000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:83040200-83045000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:83041200-83041400	Enhancers	Lung	lung

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