Variant report

Variant	rs7186665
Chromosome Location	chr16:82925521-82925522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11863075	1.00[JPT][hapmap]
rs6565077	1.00[JPT][hapmap]
rs6565078	0.81[MEX][hapmap];0.81[TSI][hapmap]
rs7190538	0.81[TSI][hapmap]
rs7192482	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7200225	1.00[JPT][hapmap]
rs7205339	0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs8045708	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9929829	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9937259	0.81[ASW][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv1064158	chr16:82919690-82935671	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7186665	COTL1	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82910400-82932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:82915800-82953000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:82918800-82933400	Weak transcription	NHEK	skin
4	chr16:82922400-82925800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr16:82922600-82925800	Weak transcription	NH-A	brain
6	chr16:82922600-82933200	Weak transcription	Fetal Muscle Leg	muscle
7	chr16:82922600-82933200	Weak transcription	Left Ventricle	heart
8	chr16:82922800-82925600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:82922800-82925600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr16:82922800-82925600	Weak transcription	Osteobl	bone
11	chr16:82924800-82925800	Enhancers	Psoas Muscle	Psoas
12	chr16:82924800-82926800	Enhancers	HSMM	muscle
13	chr16:82925000-82925800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:82925000-82926000	Enhancers	Aorta	Aorta
15	chr16:82925000-82926200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr16:82925000-82926200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr16:82925000-82927000	Enhancers	Fetal Heart	heart
18	chr16:82925000-82927400	Enhancers	HSMMtube	muscle
19	chr16:82925200-82925800	Enhancers	Right Atrium	heart
20	chr16:82925200-82925800	Enhancers	Right Ventricle	heart
21	chr16:82925200-82926600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:82925400-82925800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:82925400-82926000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:82925400-82926200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:82925400-82926200	Enhancers	NHDF-Ad	bronchial

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