Variant report

Variant	rs2288048
Chromosome Location	chr16:71320901-71320902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1002252	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1018910	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149475	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12708908	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12708909	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12708910	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12708911	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12918378	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12919927	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12929550	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13330156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1593135	0.92[ASN][1000 genomes]
rs2009763	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28673886	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2883935	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3096374	0.82[EUR][1000 genomes]
rs3114643	0.82[EUR][1000 genomes]
rs34832413	0.91[ASN][1000 genomes]
rs3803704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3826247	0.81[ASN][1000 genomes]
rs4324135	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4419068	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788786	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788787	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6416737	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6499492	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499493	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7187450	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7195330	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8049333	0.86[ASN][1000 genomes]
rs8050933	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8056169	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8059792	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8060653	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8061378	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8062240	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8063629	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9927032	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9928675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936354	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9941262	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1062426	chr16:71307180-71423400	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71306600-71322600	Weak transcription	Small Intestine	intestine
2	chr16:71315400-71321800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:71315800-71322000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:71315800-71322200	Weak transcription	Right Ventricle	heart
5	chr16:71316200-71321000	Strong transcription	HSMM	muscle
6	chr16:71316200-71321400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:71316200-71321600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr16:71316600-71321000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:71316600-71322000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr16:71316600-71322600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:71316800-71321000	Strong transcription	Primary B cells from cord blood	blood
12	chr16:71316800-71321000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:71316800-71321000	Strong transcription	Left Ventricle	heart
14	chr16:71316800-71321400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:71316800-71321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:71316800-71322000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:71316800-71322400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr16:71317000-71321000	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr16:71317000-71321000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:71317000-71321000	Strong transcription	Brain Anterior Caudate	brain
21	chr16:71317000-71321000	Strong transcription	Placenta	Placenta
22	chr16:71317000-71321200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr16:71317000-71321200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:71317000-71321200	Strong transcription	Liver	Liver
25	chr16:71317000-71321200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr16:71317000-71321400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:71317000-71322000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr16:71317200-71321200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr16:71317400-71321600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:71317400-71322000	Weak transcription	Colonic Mucosa	Colon
31	chr16:71317600-71321000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:71317600-71321000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:71317600-71321800	Weak transcription	Brain Angular Gyrus	brain
34	chr16:71317800-71321000	Strong transcription	NHDF-Ad	bronchial
35	chr16:71318000-71321000	Strong transcription	Adipose Nuclei	Adipose
36	chr16:71318200-71322000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr16:71318600-71321000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr16:71318600-71321000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr16:71318800-71321000	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr16:71318800-71321000	Strong transcription	NHLF	lung
41	chr16:71319000-71321200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
42	chr16:71319200-71321200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr16:71319200-71321400	Weak transcription	NHEK	skin
44	chr16:71319400-71321000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr16:71319400-71321000	Weak transcription	Fetal Heart	heart
46	chr16:71319400-71321400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:71319400-71322000	Weak transcription	Brain Substantia Nigra	brain
48	chr16:71319400-71322000	Weak transcription	Pancreas	Pancrea
49	chr16:71319600-71321400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:71319800-71322000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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