Variant report

Variant	rs3743954
Chromosome Location	chr16:71264399-71264400
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1155051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1155052	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1155054	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12051093	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12447448	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs12448046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12449210	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12933427	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13332757	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1364279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1424134	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1424136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1424137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1557761	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1559420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1895528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2042423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2081253	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2098746	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2158102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2356328	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28663037	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2883938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35645515	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3785346	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3902443	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4636918	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788529	0.93[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4788534	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788766	0.93[AFR][1000 genomes]
rs6499489	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7190305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7193051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7498840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757106	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs764600	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8052442	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8063809	0.82[ASN][1000 genomes]
rs987958	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9924525	0.89[ASN][1000 genomes]
rs9928164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9930115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9932494	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9934283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs9934510	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9936084	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9936905	0.88[ASN][1000 genomes]
rs9939194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9939485	0.87[JPT][hapmap]
rs9939836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9940569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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:59 , 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	chr16:71264200-71264400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:71264200-71264400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:71264200-71264400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:71264200-71264400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:71264200-71264400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr16:71264200-71264400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
26	chr16:71264200-71264400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr16:71264200-71264400	Active TSS	Pancreas	Pancrea
28	chr16:71264200-71264400	Active TSS	HSMMtube	muscle
29	chr16:71264200-71264400	Flanking Active TSS	NHEK	skin
30	chr16:71264200-71264600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr16:71264200-71264600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:71264200-71264600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:71264200-71264600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:71264200-71264600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
35	chr16:71264200-71264600	Bivalent Enhancer	Esophagus	oesophagus
36	chr16:71264200-71264600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr16:71264200-71264600	Active TSS	Fetal Lung	lung
38	chr16:71264200-71264600	Active TSS	HepG2	liver
39	chr16:71264200-71264600	Flanking Active TSS	HMEC	breast
40	chr16:71264200-71264800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr16:71264200-71264800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr16:71264200-71264800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:71264200-71264800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:71264200-71264800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr16:71264200-71264800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:71264200-71264800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:71264200-71264800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:71264200-71264800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr16:71264200-71264800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr16:71264200-71264800	Bivalent/Poised TSS	Fetal Stomach	stomach

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