Variant report

Variant	rs12922243
Chromosome Location	chr16:12524012-12524013
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	chr16:12523717..12525761-chr16:12526587..12528260,2	MCF-7	breast:
2	chr16:12518273..12521008-chr16:12521973..12524305,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1035579	0.82[ASN][1000 genomes]
rs10852347	0.88[EUR][1000 genomes]
rs10852348	0.88[EUR][1000 genomes]
rs11075070	0.86[EUR][1000 genomes]
rs11075071	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11075073	0.81[ASN][1000 genomes]
rs11647127	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11862378	0.85[EUR][1000 genomes]
rs11864693	0.85[EUR][1000 genomes]
rs12932170	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12932341	0.85[EUR][1000 genomes]
rs1477119	0.84[EUR][1000 genomes]
rs16959555	0.86[EUR][1000 genomes]
rs16959556	0.86[EUR][1000 genomes]
rs4780427	0.80[EUR][1000 genomes]
rs4780428	0.85[EUR][1000 genomes]
rs4780429	0.85[EUR][1000 genomes]
rs4780431	0.85[EUR][1000 genomes]
rs4780433	0.86[EUR][1000 genomes]
rs4781222	0.80[EUR][1000 genomes]
rs4781225	0.83[EUR][1000 genomes]
rs4781226	0.85[EUR][1000 genomes]
rs4781229	0.84[EUR][1000 genomes]
rs4781232	0.86[EUR][1000 genomes]
rs4781235	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4781237	0.84[ASN][1000 genomes]
rs4781240	0.82[ASN][1000 genomes]
rs6498292	0.85[EUR][1000 genomes]
rs6498293	0.85[EUR][1000 genomes]
rs6498295	0.86[EUR][1000 genomes]
rs7187688	0.86[EUR][1000 genomes]
rs7190294	0.86[EUR][1000 genomes]
rs7192229	0.86[EUR][1000 genomes]
rs7192339	0.86[EUR][1000 genomes]
rs7192549	0.83[EUR][1000 genomes]
rs7193128	0.86[EUR][1000 genomes]
rs7198141	0.83[EUR][1000 genomes]
rs7198154	0.86[EUR][1000 genomes]
rs7205270	0.84[ASN][1000 genomes]
rs8046923	0.85[EUR][1000 genomes]
rs8053319	0.81[EUR][1000 genomes]
rs8061365	0.85[EUR][1000 genomes]
rs8062594	0.85[EUR][1000 genomes]
rs889809	0.85[EUR][1000 genomes]
rs889810	0.84[EUR][1000 genomes]
rs889811	0.85[EUR][1000 genomes]
rs9745308	0.86[EUR][1000 genomes]
rs9746199	0.86[EUR][1000 genomes]
rs9746397	0.84[EUR][1000 genomes]
rs9746403	0.86[EUR][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
2	chr16:12497800-12539800	Weak transcription	Left Ventricle	heart
3	chr16:12498000-12541200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:12498400-12564600	Weak transcription	Esophagus	oesophagus
5	chr16:12499400-12527000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:12506200-12529600	Weak transcription	Gastric	stomach
7	chr16:12507600-12527600	Weak transcription	GM12878-XiMat	blood
8	chr16:12511400-12552000	Weak transcription	Lung	lung
9	chr16:12511600-12527600	Weak transcription	Spleen	Spleen
10	chr16:12513200-12536600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:12513600-12527600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:12514400-12526800	Weak transcription	Brain Angular Gyrus	brain
13	chr16:12514800-12529600	Weak transcription	Fetal Brain Female	brain
14	chr16:12517000-12550800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr16:12517400-12537000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:12517400-12537000	Weak transcription	Aorta	Aorta
17	chr16:12517600-12531600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:12518000-12527200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:12518400-12537000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr16:12519600-12525600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr16:12519800-12530200	Weak transcription	Placenta	Placenta
22	chr16:12520200-12526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr16:12520200-12526600	Weak transcription	Brain Anterior Caudate	brain
24	chr16:12520200-12529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:12520400-12526600	Weak transcription	Brain Substantia Nigra	brain
26	chr16:12520400-12528800	Weak transcription	Fetal Brain Male	brain
27	chr16:12520400-12529600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr16:12520400-12533600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:12522000-12537600	Weak transcription	Primary B cells from cord blood	blood
30	chr16:12523000-12524400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr16:12523200-12524200	Enhancers	Brain Hippocampus Middle	brain
32	chr16:12523200-12524400	Enhancers	Primary hematopoietic stem cells	blood
33	chr16:12523200-12524400	Enhancers	Fetal Muscle Leg	muscle
34	chr16:12523400-12524200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:12523400-12524200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:12523400-12524200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr16:12523400-12524200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr16:12523600-12524200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:12523600-12526000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr16:12523600-12529600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:12523800-12524400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:12523800-12524600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr16:12523800-12526600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:12523800-12527000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr16:12523800-12528800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr16:12524000-12526400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:12524000-12527600	Weak transcription	HepG2	liver
48	chr16:12524000-12529200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:12524000-12529800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:12524000-12529800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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