Variant report

Variant	rs12051092
Chromosome Location	chr16:12518447-12518448
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12518273..12521008-chr16:12521973..12524305,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1035578	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1035579	0.82[AMR][1000 genomes]
rs11075072	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11075073	0.82[AMR][1000 genomes]
rs11643639	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11647957	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11649076	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11859542	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12448347	0.82[EUR][1000 genomes]
rs12924190	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12926226	0.82[EUR][1000 genomes]
rs12931371	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34920830	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36011100	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4780435	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4780436	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4780437	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4780438	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781231	0.82[EUR][1000 genomes]
rs4781234	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4781236	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4781237	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4781238	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781239	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62028398	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	nsv1736	chr16:12477807-12522707	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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
7	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
8	nsv520000	chr16:12513797-12523161	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
2	chr16:12497800-12519600	Weak transcription	Brain Anterior Caudate	brain
3	chr16:12497800-12539800	Weak transcription	Left Ventricle	heart
4	chr16:12498000-12518600	Weak transcription	Fetal Intestine Small	intestine
5	chr16:12498000-12541200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:12498400-12518800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr16:12498400-12523200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:12498400-12523600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:12498400-12523800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr16:12498400-12564600	Weak transcription	Esophagus	oesophagus
11	chr16:12498800-12523800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr16:12499400-12527000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:12501800-12519600	Weak transcription	Brain Hippocampus Middle	brain
14	chr16:12506200-12529600	Weak transcription	Gastric	stomach
15	chr16:12507600-12519200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:12507600-12527600	Weak transcription	GM12878-XiMat	blood
17	chr16:12507800-12519000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:12508800-12523200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:12510200-12523000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:12511400-12519600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:12511400-12552000	Weak transcription	Lung	lung
22	chr16:12511600-12527600	Weak transcription	Spleen	Spleen
23	chr16:12512000-12519600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:12513200-12519600	Weak transcription	Brain Substantia Nigra	brain
25	chr16:12513200-12536600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:12513400-12519000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:12513600-12527600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:12514000-12519800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr16:12514400-12526800	Weak transcription	Brain Angular Gyrus	brain
30	chr16:12514600-12519200	Weak transcription	HSMM	muscle
31	chr16:12514800-12529600	Weak transcription	Fetal Brain Female	brain
32	chr16:12515000-12518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:12515000-12519400	Weak transcription	NHEK	skin
34	chr16:12515400-12520000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:12515600-12520000	Weak transcription	K562	blood
36	chr16:12516000-12522600	Weak transcription	Primary T cells from cord blood	blood
37	chr16:12516000-12523200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr16:12516200-12519000	Weak transcription	HSMMtube	muscle
39	chr16:12516200-12519200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:12516600-12519000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:12516800-12518800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr16:12517000-12519600	Weak transcription	Fetal Muscle Leg	muscle
43	chr16:12517000-12550800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr16:12517200-12519200	Weak transcription	Fetal Brain Male	brain
45	chr16:12517400-12518800	Weak transcription	Ovary	ovary
46	chr16:12517400-12520000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:12517400-12520000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:12517400-12520000	Weak transcription	Adipose Nuclei	Adipose
49	chr16:12517400-12537000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:12517400-12537000	Weak transcription	Aorta	Aorta

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