Variant report

Variant	rs72790111
Chromosome Location	chr16:82917417-82917418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11649390	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17674527	0.87[AMR][1000 genomes]
rs1991026	0.84[AMR][1000 genomes]
rs62035221	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62035222	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7192482	0.82[AMR][1000 genomes];0.81[EUR][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	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
7	nsv573382	chr16:82905546-82950502	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82905600-82921000	Weak transcription	Fetal Muscle Leg	muscle
2	chr16:82905800-82924800	Weak transcription	HSMM	muscle
3	chr16:82905800-82925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:82908800-82922000	Weak transcription	Aorta	Aorta
5	chr16:82909800-82921600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:82910400-82932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:82911000-82921800	Weak transcription	HSMMtube	muscle
8	chr16:82912800-82921600	Weak transcription	Colon Smooth Muscle	Colon
9	chr16:82913000-82921800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:82914600-82918200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr16:82915200-82922200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:82915400-82920800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:82915600-82922000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:82915800-82953000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:82916200-82922000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:82916600-82918000	Enhancers	Primary B cells from peripheral blood	blood
17	chr16:82916800-82918200	Enhancers	Left Ventricle	heart
18	chr16:82916800-82922200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:82917000-82917600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:82917000-82917600	Enhancers	Right Atrium	heart
21	chr16:82917000-82918200	Enhancers	Psoas Muscle	Psoas
22	chr16:82917200-82918000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:82917200-82918000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:82917400-82922000	Weak transcription	Right Ventricle	heart

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