Variant report

Variant	rs4578640
Chromosome Location	chr16:82749056-82749057
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16958359	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16958373	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16958374	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16958428	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17191427	0.82[EUR][1000 genomes]
rs2169449	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73604825	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv907023	chr16:82680391-82751932	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases
7	nsv1065303	chr16:82685793-82758280	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
8	nsv542999	chr16:82685793-82758280	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
9	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
10	nsv907024	chr16:82713874-82768568	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
11	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
12	nsv907025	chr16:82718030-82768568	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
13	nsv1067216	chr16:82719694-82821762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
14	nsv543000	chr16:82719694-82821762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82735400-82762000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr16:82737600-82763000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:82741800-82749600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr16:82741800-82750000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:82743400-82749400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr16:82745600-82749400	Weak transcription	HSMM	muscle
7	chr16:82746000-82761000	Weak transcription	HMEC	breast
8	chr16:82746200-82750800	Enhancers	Left Ventricle	heart
9	chr16:82746400-82750800	Enhancers	Right Ventricle	heart
10	chr16:82746400-82763000	Weak transcription	NH-A	brain
11	chr16:82746800-82749400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr16:82747200-82749600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:82747200-82749600	Weak transcription	HSMMtube	muscle
14	chr16:82747600-82750800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:82747800-82762200	Weak transcription	HUVEC	blood vessel
16	chr16:82748200-82749400	Strong transcription	NHEK	skin
17	chr16:82748400-82749600	Enhancers	Fetal Heart	heart
18	chr16:82748600-82750000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr16:82748600-82750400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:82748600-82750800	Enhancers	Right Atrium	heart
21	chr16:82748800-82749200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:82748800-82749600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:82748800-82749800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:82748800-82750000	Enhancers	Fetal Muscle Leg	muscle
25	chr16:82748800-82750200	Enhancers	Adipose Nuclei	Adipose
26	chr16:82748800-82750400	Enhancers	Aorta	Aorta
27	chr16:82748800-82750800	Enhancers	Psoas Muscle	Psoas
28	chr16:82748800-82751000	Enhancers	Brain Germinal Matrix	brain
29	chr16:82749000-82749400	Weak transcription	Lung	lung
30	chr16:82749000-82749600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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