Variant report

Variant	rs7205148
Chromosome Location	chr16:82666823-82666824
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10514548	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10871434	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12051213	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2116971	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2163869	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4783244	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7202931	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7204787	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8047711	0.96[ASN][1000 genomes]
rs8051657	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8060301	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9925671	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv833305	chr16:82563888-82722084	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	nsv1062787	chr16:82601618-82676019	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv542998	chr16:82601618-82676019	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82662600-82669600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:82662800-82667600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:82662800-82667600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:82662800-82668800	Enhancers	Fetal Muscle Leg	muscle
5	chr16:82663200-82675000	Enhancers	Right Ventricle	heart
6	chr16:82663400-82667400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr16:82663400-82667600	Weak transcription	Esophagus	oesophagus
8	chr16:82663400-82672800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:82663800-82667600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:82664000-82667600	Weak transcription	Fetal Stomach	stomach
11	chr16:82664000-82669200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr16:82664000-82674800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:82664400-82667800	Weak transcription	Fetal Intestine Small	intestine
14	chr16:82664400-82667800	Enhancers	HSMMtube	muscle
15	chr16:82664400-82676400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr16:82664600-82667000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:82664800-82667200	Weak transcription	Brain Hippocampus Middle	brain
18	chr16:82664800-82667200	Weak transcription	Brain Substantia Nigra	brain
19	chr16:82665000-82667200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:82665000-82668400	Enhancers	Fetal Muscle Trunk	muscle
21	chr16:82665000-82670200	Enhancers	Left Ventricle	heart
22	chr16:82665400-82671800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:82665600-82667000	Genic enhancers	HSMM	muscle
24	chr16:82665600-82667600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:82665600-82667600	Weak transcription	Aorta	Aorta
26	chr16:82665800-82667400	Weak transcription	Fetal Heart	heart
27	chr16:82665800-82667600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:82666000-82667000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:82666000-82667600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:82666000-82667600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr16:82666000-82667600	Weak transcription	Hela-S3	cervix
32	chr16:82666200-82667200	Weak transcription	HUVEC	blood vessel
33	chr16:82666200-82667200	Weak transcription	NH-A	brain
34	chr16:82666200-82667200	Weak transcription	NHLF	lung
35	chr16:82666200-82667400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:82666200-82667400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:82666200-82667400	Weak transcription	NHDF-Ad	bronchial
38	chr16:82666200-82667400	Weak transcription	Osteobl	bone
39	chr16:82666200-82667600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:82666200-82667600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:82666200-82667600	Weak transcription	Right Atrium	heart
42	chr16:82666200-82667800	Weak transcription	Brain Angular Gyrus	brain
43	chr16:82666200-82667800	Enhancers	HMEC	breast
44	chr16:82666400-82667400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr16:82666600-82667000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr16:82666600-82669200	Enhancers	Psoas Muscle	Psoas
47	chr16:82666800-82667400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:82666800-82667400	Transcr. at gene 5' and 3'	NHEK	skin

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