Variant report

Variant	rs16980556
Chromosome Location	chr21:28796129-28796130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs56174875	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916307	chr21:28762455-28905095	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28789200-28798000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:28789400-28798000	Weak transcription	Spleen	Spleen
3	chr21:28789400-28802000	Weak transcription	Left Ventricle	heart
4	chr21:28793000-28798800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:28793200-28798000	Weak transcription	Pancreas	Pancrea
6	chr21:28793800-28796400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr21:28793800-28798600	Enhancers	Osteobl	bone
8	chr21:28793800-28798800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:28793800-28799000	Enhancers	NHDF-Ad	bronchial
10	chr21:28794000-28798000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:28794000-28798200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:28794000-28798600	Enhancers	Adipose Nuclei	Adipose
13	chr21:28794000-28798600	Enhancers	NHLF	lung
14	chr21:28794000-28799200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr21:28794200-28796400	Enhancers	HSMMtube	muscle
16	chr21:28794200-28797000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr21:28794200-28798800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr21:28794200-28799000	Enhancers	HSMM	muscle
19	chr21:28794600-28796800	Enhancers	Fetal Lung	lung
20	chr21:28794600-28797600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:28794600-28798600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr21:28794600-28798800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:28794600-28798800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr21:28794600-28798800	Enhancers	HMEC	breast
25	chr21:28794800-28797000	Enhancers	NH-A	brain
26	chr21:28795000-28796200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr21:28795000-28797800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr21:28795200-28796200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr21:28795200-28797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr21:28795200-28798400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr21:28795400-28796800	Enhancers	Duodenum Mucosa	Duodenum
32	chr21:28795400-28797200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr21:28795400-28797200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr21:28795400-28797400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr21:28795400-28798000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr21:28795400-28798400	Enhancers	Placenta	Placenta
37	chr21:28795400-28798400	Enhancers	NHEK	skin
38	chr21:28795600-28796400	Weak transcription	Fetal Stomach	stomach
39	chr21:28795600-28796600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr21:28795600-28797200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr21:28795600-28798000	Weak transcription	Fetal Muscle Leg	muscle
42	chr21:28795600-28798000	Weak transcription	Psoas Muscle	Psoas
43	chr21:28795600-28798000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr21:28795600-28801800	Weak transcription	Aorta	Aorta
45	chr21:28795800-28796200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr21:28795800-28796200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:28795800-28796800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:28796000-28796400	Weak transcription	Ovary	ovary
49	chr21:28796000-28797200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr21:28796000-28797200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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