Variant report

Variant	rs7201457
Chromosome Location	chr16:12543466-12543467
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	chr16:12533985..12536929-chr16:12543144..12544698,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1641832	1.00[AMR][1000 genomes]
rs1861645	1.00[AMR][1000 genomes]
rs4781216	1.00[AMR][1000 genomes]
rs4781241	1.00[AMR][1000 genomes]
rs929899	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1036612	chr16:12518604-12565232	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12498400-12564600	Weak transcription	Esophagus	oesophagus
2	chr16:12511400-12552000	Weak transcription	Lung	lung
3	chr16:12517000-12550800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr16:12524000-12551400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:12528800-12564400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:12529800-12544400	Weak transcription	Gastric	stomach
7	chr16:12530400-12577600	Weak transcription	Pancreas	Pancrea
8	chr16:12531600-12552000	Weak transcription	Spleen	Spleen
9	chr16:12531800-12544400	Weak transcription	Ovary	ovary
10	chr16:12531800-12552000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:12532000-12545800	Weak transcription	Brain Hippocampus Middle	brain
12	chr16:12532400-12545800	Weak transcription	Brain Anterior Caudate	brain
13	chr16:12532400-12552000	Weak transcription	Thymus	Thymus
14	chr16:12534000-12545800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:12534000-12552000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr16:12534000-12556000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:12534200-12544000	Weak transcription	HSMM	muscle
18	chr16:12534200-12549000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr16:12534400-12552000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr16:12534600-12545200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr16:12534600-12545800	Weak transcription	Fetal Muscle Leg	muscle
22	chr16:12536400-12545800	Weak transcription	Brain Substantia Nigra	brain
23	chr16:12537200-12551000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr16:12537200-12552000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:12537600-12545000	Weak transcription	Fetal Stomach	stomach
26	chr16:12537600-12545200	Strong transcription	Primary B cells from cord blood	blood
27	chr16:12537800-12543600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:12537800-12546800	Weak transcription	Aorta	Aorta
29	chr16:12538000-12543800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:12538400-12543800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:12541600-12543600	Strong transcription	Primary T cells from cord blood	blood
32	chr16:12543200-12543800	Enhancers	HSMMtube	muscle
33	chr16:12543200-12544000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr16:12543400-12544000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:12543400-12544400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:12543400-12544600	Enhancers	NHEK	skin
37	chr16:12543400-12545000	Weak transcription	Placenta	Placenta

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