Variant report

Variant	rs12447822
Chromosome Location	chr16:12291108-12291109
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12289297..12291901-chr16:12382629..12384781,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11642364	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11642867	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11643843	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11644280	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11644612	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11646544	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11647545	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11647857	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12444353	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12445236	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12446101	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1472979	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1809989	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3844114	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4781189	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4781190	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4781191	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4781192	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4781194	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4781195	0.92[ASN][1000 genomes]
rs4781196	0.93[ASN][1000 genomes]
rs55939888	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6498269	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6498270	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67401564	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7192589	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7193992	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7193997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7197299	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7206824	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73504103	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73521875	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8046606	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9788826	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788917	0.97[EUR][1000 genomes];0.94[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	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	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
3	nsv571461	chr16:12268830-12314451	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12242200-12299400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr16:12257000-12296800	Weak transcription	Thymus	Thymus
3	chr16:12261200-12293400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr16:12261200-12293600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr16:12261400-12292400	Weak transcription	GM12878-XiMat	blood
6	chr16:12261800-12322000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:12271400-12293600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:12276800-12296800	Weak transcription	Gastric	stomach
9	chr16:12278600-12299400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:12279800-12297800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:12281200-12297000	Weak transcription	Lung	lung
12	chr16:12282800-12297200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr16:12282800-12298800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:12282800-12305400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:12282800-12322600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:12283000-12291600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr16:12283000-12293600	Weak transcription	Adipose Nuclei	Adipose
18	chr16:12283000-12296400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr16:12283000-12296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:12283000-12298200	Weak transcription	Left Ventricle	heart
21	chr16:12283200-12298200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr16:12283200-12300200	Weak transcription	NHEK	skin
23	chr16:12283200-12302000	Weak transcription	NHDF-Ad	bronchial
24	chr16:12283400-12293000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:12283400-12310200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr16:12284400-12291400	Weak transcription	Primary T cells from cord blood	blood
27	chr16:12284600-12295400	Weak transcription	HSMMtube	muscle
28	chr16:12284600-12296200	Weak transcription	Fetal Muscle Leg	muscle
29	chr16:12284600-12296600	Weak transcription	Spleen	Spleen
30	chr16:12284800-12297800	Weak transcription	Fetal Thymus	thymus
31	chr16:12285600-12293400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:12286400-12291600	Weak transcription	Primary B cells from cord blood	blood
33	chr16:12287200-12299200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:12287600-12294800	Weak transcription	Osteobl	bone
35	chr16:12287800-12292200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr16:12287800-12294800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:12287800-12302200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:12288000-12296400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr16:12288200-12293400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr16:12288400-12293400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr16:12289200-12292800	Weak transcription	HepG2	liver
42	chr16:12289400-12293000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:12289600-12293600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr16:12289600-12296200	Weak transcription	Fetal Stomach	stomach
45	chr16:12289800-12292800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr16:12290800-12299200	Weak transcription	Esophagus	oesophagus
47	chr16:12291000-12294600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr16:12291000-12295400	Weak transcription	Placenta	Placenta

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