Variant report

Variant	rs11860548
Chromosome Location	chr16:82678183-82678184
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16957635	1.00[AMR][1000 genomes]
rs16957637	1.00[AMR][1000 genomes]
rs7192282	1.00[AMR][1000 genomes]
rs7197666	1.00[AMR][1000 genomes]
rs73593482	1.00[AMR][1000 genomes]
rs73595303	1.00[AMR][1000 genomes]
rs8063797	1.00[AMR][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	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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82669200-82678200	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr16:82672000-82679200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:82672000-82681400	Weak transcription	Esophagus	oesophagus
4	chr16:82672200-82685800	Weak transcription	HSMMtube	muscle
5	chr16:82673800-82685600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:82674000-82678200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:82674800-82679000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:82675000-82679400	Enhancers	Fetal Heart	heart
9	chr16:82675400-82682800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:82675400-82682800	Weak transcription	HMEC	breast
11	chr16:82675600-82678200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr16:82675600-82680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:82675600-82680600	Weak transcription	Right Ventricle	heart
14	chr16:82675600-82682400	Weak transcription	HSMM	muscle
15	chr16:82675600-82683000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:82676200-82678600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr16:82676400-82680000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr16:82676600-82679000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr16:82676600-82679200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:82676800-82678600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr16:82676800-82681000	Weak transcription	Colonic Mucosa	Colon
22	chr16:82677000-82679800	Weak transcription	Psoas Muscle	Psoas
23	chr16:82677200-82678400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:82677200-82678600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr16:82677200-82679200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr16:82677200-82679800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr16:82677200-82683800	Weak transcription	GM12878-XiMat	blood
28	chr16:82677400-82678200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr16:82677600-82678400	Enhancers	Brain Germinal Matrix	brain
30	chr16:82677800-82678200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr16:82677800-82678200	Enhancers	NHEK	skin
32	chr16:82677800-82678400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:82677800-82678400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:82677800-82678400	Enhancers	NH-A	brain
35	chr16:82677800-82678400	Enhancers	Osteobl	bone
36	chr16:82677800-82678600	Enhancers	Left Ventricle	heart
37	chr16:82678000-82678400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:82678000-82678400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr16:82678000-82678600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr16:82678000-82678800	Enhancers	Right Atrium	heart
41	chr16:82678000-82679000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr16:82678000-82679200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:82678000-82685600	Weak transcription	Fetal Muscle Leg	muscle
44	chr16:82678000-82687000	Weak transcription	Lung	lung

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