Variant report

Variant	rs4781191
Chromosome Location	chr16:12264408-12264409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12263177..12264784-chr16:12265317..12268165,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11642364	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11642867	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11643843	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11644280	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11644612	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11646544	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11647545	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11647857	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12444353	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12445236	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12446101	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12447822	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1472979	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1809989	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3844114	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781189	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781190	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781192	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4781194	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4781195	0.93[ASN][1000 genomes]
rs4781196	0.94[ASN][1000 genomes]
rs55939888	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6498269	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6498270	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67401564	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7192589	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7193992	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7193997	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7197299	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7206824	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73504103	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73521875	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8046606	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9788826	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9788917	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[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:69 , 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	chr16:12242200-12299400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr16:12242400-12264600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:12242400-12280600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:12253400-12267800	Weak transcription	Brain Hippocampus Middle	brain
7	chr16:12253400-12268000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:12254200-12268200	Weak transcription	Brain Anterior Caudate	brain
9	chr16:12254200-12272000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:12254200-12277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:12256800-12268000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:12256800-12268000	Weak transcription	Gastric	stomach
13	chr16:12257000-12264600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:12257000-12296800	Weak transcription	Thymus	Thymus
15	chr16:12260800-12268000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr16:12261200-12293400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr16:12261200-12293600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr16:12261400-12292400	Weak transcription	GM12878-XiMat	blood
19	chr16:12261800-12265800	Enhancers	HSMMtube	muscle
20	chr16:12261800-12322000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr16:12262000-12265200	Enhancers	Fetal Heart	heart
22	chr16:12262000-12272000	Weak transcription	Aorta	Aorta
23	chr16:12262400-12265200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:12262400-12267800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr16:12262400-12267800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr16:12262400-12268000	Weak transcription	Lung	lung
27	chr16:12262400-12277400	Weak transcription	NHEK	skin
28	chr16:12262600-12282200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr16:12262800-12264800	Weak transcription	Primary B cells from cord blood	blood
30	chr16:12263000-12266600	Weak transcription	Left Ventricle	heart
31	chr16:12263000-12271000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:12263200-12264800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:12263200-12287600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr16:12263600-12264800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr16:12263600-12265200	Enhancers	Fetal Muscle Leg	muscle
36	chr16:12263600-12266200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr16:12263800-12265200	Enhancers	Colon Smooth Muscle	Colon
38	chr16:12263800-12265200	Enhancers	Fetal Muscle Trunk	muscle
39	chr16:12263800-12265200	Enhancers	Fetal Stomach	stomach
40	chr16:12263800-12265400	Enhancers	Placenta	Placenta
41	chr16:12263800-12265800	Strong transcription	Primary T cells from cord blood	blood
42	chr16:12263800-12265800	Enhancers	NHDF-Ad	bronchial
43	chr16:12264000-12264600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr16:12264000-12264600	Enhancers	Brain Germinal Matrix	brain
45	chr16:12264000-12264600	Genic enhancers	Spleen	Spleen
46	chr16:12264000-12264800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:12264000-12265000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:12264000-12265000	Enhancers	Ovary	ovary
49	chr16:12264000-12265200	Enhancers	Rectal Smooth Muscle	rectum
50	chr16:12264000-12265400	Enhancers	NH-A	brain

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