Variant report

Variant	rs12449210
Chromosome Location	chr16:71264523-71264524
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1155052	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1155054	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12051093	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12448046	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12933427	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13332757	0.90[ASN][1000 genomes]
rs1424134	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1424136	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1424137	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1557761	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1559420	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1895528	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2042423	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2081253	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2098746	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2158102	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28663037	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2883938	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35645515	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743954	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3785346	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3902443	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4636918	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788529	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4788534	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788536	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4788766	0.93[AFR][1000 genomes]
rs6499489	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7193051	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7498840	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs757106	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs764600	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8052442	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8063809	0.83[ASN][1000 genomes]
rs987958	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9924525	0.90[ASN][1000 genomes]
rs9928164	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9930115	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9932494	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9934510	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9936084	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9936905	0.89[ASN][1000 genomes]
rs9939194	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9939836	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9940569	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][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	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1060754	chr16:71008303-71276778	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71263400-71265000	Active TSS	Brain Anterior Caudate	brain
2	chr16:71263400-71265200	Active TSS	Fetal Kidney	kidney
3	chr16:71263600-71264600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:71263600-71264600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
5	chr16:71263600-71264800	Active TSS	Fetal Brain Male	brain
6	chr16:71263800-71264600	Active TSS	A549	lung
7	chr16:71263800-71264800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:71263800-71265000	Active TSS	Brain Germinal Matrix	brain
9	chr16:71264000-71264800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr16:71264000-71264800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr16:71264000-71264800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr16:71264000-71265000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr16:71264000-71265000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr16:71264000-71265200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:71264000-71265200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr16:71264000-71265200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr16:71264000-71265200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:71264000-71265200	Active TSS	Fetal Brain Female	brain
19	chr16:71264000-71265200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr16:71264200-71264600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:71264200-71264600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:71264200-71264600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:71264200-71264600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:71264200-71264600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr16:71264200-71264600	Bivalent Enhancer	Esophagus	oesophagus
26	chr16:71264200-71264600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
27	chr16:71264200-71264600	Active TSS	Fetal Lung	lung
28	chr16:71264200-71264600	Active TSS	HepG2	liver
29	chr16:71264200-71264600	Flanking Active TSS	HMEC	breast
30	chr16:71264200-71264800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr16:71264200-71264800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr16:71264200-71264800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:71264200-71264800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:71264200-71264800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:71264200-71264800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr16:71264200-71264800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:71264200-71264800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:71264200-71264800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr16:71264200-71264800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr16:71264200-71264800	Bivalent/Poised TSS	Fetal Stomach	stomach
41	chr16:71264200-71265000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr16:71264200-71265000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:71264200-71265000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr16:71264200-71265000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr16:71264200-71265000	Active TSS	Brain Angular Gyrus	brain
46	chr16:71264200-71265000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr16:71264200-71265000	Bivalent Enhancer	Placenta	Placenta
48	chr16:71264200-71265000	Active TSS	NH-A	brain
49	chr16:71264200-71265200	Active TSS	Brain Substantia Nigra	brain
50	chr16:71264400-71264600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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