Variant report

Variant	rs72790104
Chromosome Location	chr16:82907533-82907534
allele	C/G
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:11)

rs_ID	r²[population]
rs12932028	1.00[AFR][1000 genomes]
rs72790112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72790130	1.00[AFR][1000 genomes]
rs72790145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72805938	1.00[AFR][1000 genomes]
rs72805951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72805977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72805981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72806002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72807830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606808	1.00[AMR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82886200-82917000	Weak transcription	Right Ventricle	heart
2	chr16:82891600-82907800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr16:82899400-82909800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:82901200-82910400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:82905000-82910400	Weak transcription	HSMMtube	muscle
6	chr16:82905600-82921000	Weak transcription	Fetal Muscle Leg	muscle
7	chr16:82905800-82907800	Weak transcription	Aorta	Aorta
8	chr16:82905800-82924800	Weak transcription	HSMM	muscle
9	chr16:82905800-82925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:82906400-82908800	Enhancers	Fetal Heart	heart
11	chr16:82906600-82908800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr16:82906800-82907800	Weak transcription	Fetal Brain Male	brain
13	chr16:82907200-82907600	Weak transcription	Left Ventricle	heart
14	chr16:82907200-82907800	Weak transcription	Psoas Muscle	Psoas
15	chr16:82907200-82908000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr16:82907400-82908800	Enhancers	Rectal Smooth Muscle	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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