Variant report

Variant	rs12924360
Chromosome Location	chr16:12497575-12497576
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	chr16:12496114..12497637-chr16:12507756..12510093,2	K562	blood:
2	chr16:12493474..12495978-chr16:12497042..12499822,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10852347	0.80[AMR][1000 genomes]
rs10852348	0.80[AMR][1000 genomes]
rs11075070	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11862378	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11864693	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12444071	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12926672	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12927878	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12932341	0.80[EUR][1000 genomes]
rs1477119	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16959555	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16959556	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2098761	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35980136	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3851015	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4780428	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4780429	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4780431	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4780432	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4780433	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4781222	0.80[AMR][1000 genomes]
rs4781225	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4781226	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4781227	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4781229	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4781232	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4781233	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6498292	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6498293	0.81[EUR][1000 genomes]
rs6498294	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6498295	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6498296	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7187313	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7187688	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7190294	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7192229	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7192339	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7193128	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7198141	0.81[AMR][1000 genomes]
rs7198154	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8043724	0.80[AMR][1000 genomes]
rs8046923	0.81[AMR][1000 genomes]
rs8047108	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8047934	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8052297	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8053319	0.80[AMR][1000 genomes]
rs8061365	0.81[AMR][1000 genomes]
rs889809	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs889810	0.80[AMR][1000 genomes]
rs889811	0.80[EUR][1000 genomes]
rs9745308	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9746199	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9746403	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	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
8	nsv1046002	chr16:12482003-12510643	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12471800-12499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
3	chr16:12482400-12510400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:12485000-12501000	Weak transcription	NHEK	skin
5	chr16:12487000-12497800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr16:12487400-12506400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr16:12487800-12499600	Weak transcription	Psoas Muscle	Psoas
8	chr16:12488200-12499200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr16:12489600-12501000	Weak transcription	NHDF-Ad	bronchial
10	chr16:12490200-12499400	Strong transcription	Primary T cells from cord blood	blood
11	chr16:12491800-12500400	Weak transcription	Right Atrium	heart
12	chr16:12492200-12497800	Weak transcription	Fetal Thymus	thymus
13	chr16:12492400-12497800	Weak transcription	Brain Germinal Matrix	brain
14	chr16:12492400-12501000	Weak transcription	Fetal Kidney	kidney
15	chr16:12492800-12497600	Weak transcription	Ovary	ovary
16	chr16:12492800-12501000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:12492800-12501000	Weak transcription	Osteobl	bone
18	chr16:12493000-12498000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr16:12494600-12497600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:12494600-12500200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:12495600-12497600	Strong transcription	GM12878-XiMat	blood
22	chr16:12495600-12500800	Weak transcription	Placenta	Placenta
23	chr16:12495800-12498600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr16:12495800-12501600	Strong transcription	Primary B cells from cord blood	blood
25	chr16:12496000-12499200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr16:12496000-12499400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr16:12496000-12501000	Weak transcription	Fetal Lung	lung
28	chr16:12496000-12501400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:12496000-12501400	Weak transcription	Fetal Intestine Large	intestine
30	chr16:12496000-12503400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr16:12496200-12499600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr16:12496400-12501200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr16:12496600-12498800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr16:12496600-12500600	Weak transcription	HepG2	liver
35	chr16:12496600-12502800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:12496800-12497600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:12496800-12498000	Strong transcription	Fetal Muscle Leg	muscle
38	chr16:12496800-12498200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr16:12496800-12498200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr16:12496800-12498200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:12496800-12498200	Strong transcription	Lung	lung
42	chr16:12496800-12498200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr16:12496800-12498400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr16:12496800-12498400	Strong transcription	Esophagus	oesophagus
45	chr16:12496800-12499400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr16:12496800-12499400	Weak transcription	Dnd41	blood
47	chr16:12496800-12499600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:12497000-12498000	Strong transcription	NHLF	lung
49	chr16:12497000-12498400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr16:12497200-12497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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