Variant report

Variant	rs4781226
Chromosome Location	chr16:12500298-12500299
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12485157..12486773-chr16:12498470..12500396,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1019576	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10852347	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10852348	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11075070	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11641304	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11862378	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11864693	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12444071	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12922243	0.85[EUR][1000 genomes]
rs12924360	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12926672	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12927878	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12932170	0.82[EUR][1000 genomes]
rs12932341	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1477119	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16959555	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16959556	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1974905	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2098761	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2865239	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3851015	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4780427	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4780428	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4780429	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4780431	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4780432	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4780433	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4781220	0.88[ASN][1000 genomes]
rs4781221	0.88[ASN][1000 genomes]
rs4781222	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4781225	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4781227	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4781229	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4781232	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4781233	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4781235	0.81[EUR][1000 genomes]
rs6498286	0.87[EUR][1000 genomes]
rs6498288	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6498289	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6498292	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6498293	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6498294	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6498295	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6498296	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7187130	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7187688	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7190294	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7192229	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7192339	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7192549	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7193128	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7198141	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7198154	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7199220	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8043724	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8046923	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8047108	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8047934	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8049186	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8052297	0.81[EUR][1000 genomes]
rs8053319	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8061365	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8062594	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs889809	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs889810	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs889811	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9745308	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9746199	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9746397	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9746403	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
2	chr16:12482400-12510400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:12485000-12501000	Weak transcription	NHEK	skin
4	chr16:12487400-12506400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr16:12489600-12501000	Weak transcription	NHDF-Ad	bronchial
6	chr16:12491800-12500400	Weak transcription	Right Atrium	heart
7	chr16:12492400-12501000	Weak transcription	Fetal Kidney	kidney
8	chr16:12492800-12501000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:12492800-12501000	Weak transcription	Osteobl	bone
10	chr16:12495600-12500800	Weak transcription	Placenta	Placenta
11	chr16:12495800-12501600	Strong transcription	Primary B cells from cord blood	blood
12	chr16:12496000-12501000	Weak transcription	Fetal Lung	lung
13	chr16:12496000-12501400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:12496000-12501400	Weak transcription	Fetal Intestine Large	intestine
15	chr16:12496000-12503400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr16:12496400-12501200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:12496600-12500600	Weak transcription	HepG2	liver
18	chr16:12496600-12502800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:12497200-12501000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:12497200-12502200	Enhancers	Primary hematopoietic stem cells	blood
21	chr16:12497600-12500400	Enhancers	HUVEC	blood vessel
22	chr16:12497800-12500800	Weak transcription	A549	lung
23	chr16:12497800-12505000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:12497800-12519600	Weak transcription	Brain Anterior Caudate	brain
25	chr16:12497800-12539800	Weak transcription	Left Ventricle	heart
26	chr16:12498000-12500600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr16:12498000-12500800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:12498000-12500800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:12498000-12500800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr16:12498000-12500800	Weak transcription	NHLF	lung
31	chr16:12498000-12506800	Weak transcription	HSMMtube	muscle
32	chr16:12498000-12510800	Weak transcription	Spleen	Spleen
33	chr16:12498000-12511600	Weak transcription	Fetal Muscle Leg	muscle
34	chr16:12498000-12515400	Weak transcription	Pancreas	Pancrea
35	chr16:12498000-12518600	Weak transcription	Fetal Intestine Small	intestine
36	chr16:12498000-12541200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr16:12498200-12500800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:12498200-12500800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:12498200-12500800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:12498200-12500800	Weak transcription	Brain Hippocampus Middle	brain
41	chr16:12498200-12501000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:12498200-12501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr16:12498200-12504200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr16:12498200-12504200	Weak transcription	Thymus	Thymus
45	chr16:12498200-12505400	Weak transcription	Gastric	stomach
46	chr16:12498200-12506000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr16:12498200-12510600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr16:12498200-12513200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr16:12498200-12517200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr16:12498400-12500800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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