Variant report

Variant	rs12444353
Chromosome Location	chr16:12262263-12262264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12260496..12262911-chr16:12270695..12272888,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11642364	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11642867	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11643843	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11644280	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11644612	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11646544	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11647545	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11647857	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12445236	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12446101	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12447822	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1472979	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1809989	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3844114	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4781189	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4781190	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4781191	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4781192	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4781194	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781195	0.94[ASN][1000 genomes]
rs4781196	0.95[ASN][1000 genomes]
rs55939888	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6498269	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6498270	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67401564	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7192589	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7193992	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7193997	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7197299	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7206824	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73504103	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73521875	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8046606	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs830717	0.84[CHB][hapmap]
rs9788826	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9788917	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1052973	chr16:12188092-12307880	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1039590	chr16:12237623-12279574	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12231400-12268000	Weak transcription	Pancreas	Pancrea
2	chr16:12234600-12265600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr16:12242200-12262800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:12242200-12299400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr16:12242400-12264600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr16:12242400-12280600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:12251800-12264000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:12252000-12264200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:12253200-12264000	Weak transcription	Esophagus	oesophagus
10	chr16:12253400-12264200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:12253400-12267800	Weak transcription	Brain Hippocampus Middle	brain
12	chr16:12253400-12268000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:12254000-12263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:12254200-12268200	Weak transcription	Brain Anterior Caudate	brain
15	chr16:12254200-12272000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:12254200-12277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:12254600-12263800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:12254800-12264000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:12256800-12263600	Weak transcription	Fetal Muscle Leg	muscle
20	chr16:12256800-12264000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:12256800-12264000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr16:12256800-12264400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr16:12256800-12264400	Weak transcription	NHLF	lung
24	chr16:12256800-12268000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr16:12256800-12268000	Weak transcription	Gastric	stomach
26	chr16:12257000-12264600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr16:12257000-12296800	Weak transcription	Thymus	Thymus
28	chr16:12257200-12264200	Weak transcription	Fetal Lung	lung
29	chr16:12259800-12264000	Weak transcription	Ovary	ovary
30	chr16:12260400-12263000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr16:12260600-12262800	Strong transcription	Primary T cells from cord blood	blood
32	chr16:12260800-12262400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr16:12260800-12262800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:12260800-12268000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr16:12261000-12263200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr16:12261000-12263400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:12261000-12263600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr16:12261200-12262400	Enhancers	NHEK	skin
39	chr16:12261200-12293400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr16:12261200-12293600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr16:12261400-12262800	Strong transcription	Primary B cells from cord blood	blood
42	chr16:12261400-12292400	Weak transcription	GM12878-XiMat	blood
43	chr16:12261600-12262400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:12261600-12262400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr16:12261600-12262400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr16:12261600-12262400	Enhancers	Fetal Brain Male	brain
47	chr16:12261600-12262400	Genic enhancers	Lung	lung
48	chr16:12261600-12262600	Enhancers	Spleen	Spleen
49	chr16:12261800-12262600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:12261800-12262600	Enhancers	Placenta	Placenta

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