Variant report

Variant	rs8044240
Chromosome Location	chr16:12654372-12654373
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	chr16:12646912..12648633-chr16:12652435..12654729,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11643055	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11863694	0.86[AFR][1000 genomes]
rs12444976	0.85[EUR][1000 genomes]
rs1560115	0.82[EUR][1000 genomes]
rs35339898	0.84[AMR][1000 genomes]
rs3848243	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4780448	0.80[EUR][1000 genomes]
rs4781252	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4781259	0.82[EUR][1000 genomes]
rs57594455	0.85[ASN][1000 genomes]
rs62028167	0.81[EUR][1000 genomes]
rs62028169	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6498319	0.80[EUR][1000 genomes]
rs6498320	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66657300	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7192256	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7198011	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72773390	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73510247	0.91[ASN][1000 genomes]
rs8055170	0.81[EUR][1000 genomes]
rs9930337	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9930484	0.82[EUR][1000 genomes]
rs9938602	0.81[EUR][1000 genomes]
rs9939547	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
7	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
8	nsv431433	chr16:12628409-12654408	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1842867	chr16:12632286-12678721	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2751546	chr16:12635498-12674704	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1050004	chr16:12641649-12654618	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv2757628	chr16:12647181-12654408	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
13	esv2758630	chr16:12647181-12654408	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
14	esv2760409	chr16:12647181-12654504	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
15	nsv431434	chr16:12648058-12654408	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
16	nsv1050925	chr16:12648058-12670588	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1044772	chr16:12648266-12668751	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv528018	chr16:12653650-12657321	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
3	chr16:12633400-12654400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr16:12639400-12659000	Weak transcription	Lung	lung
5	chr16:12641200-12667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:12642000-12662200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr16:12642200-12655000	Weak transcription	Spleen	Spleen
8	chr16:12643000-12659200	Weak transcription	Placenta	Placenta
9	chr16:12645200-12661600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr16:12646000-12655400	Weak transcription	Gastric	stomach
11	chr16:12646000-12659000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr16:12646000-12661000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr16:12646200-12654800	Weak transcription	Primary T cells from cord blood	blood
14	chr16:12646200-12659800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:12646200-12660000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr16:12646400-12659400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr16:12646400-12660800	Weak transcription	Thymus	Thymus
18	chr16:12647400-12658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:12647400-12662200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:12647400-12665200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:12647600-12661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:12648000-12662200	Weak transcription	Fetal Stomach	stomach
23	chr16:12648400-12668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:12648800-12659200	Weak transcription	Esophagus	oesophagus
25	chr16:12649000-12658600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr16:12649800-12662200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:12652000-12654400	Weak transcription	GM12878-XiMat	blood
28	chr16:12652200-12660200	Strong transcription	Primary B cells from cord blood	blood
29	chr16:12652200-12669200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:12652400-12658200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr16:12652400-12666400	Weak transcription	Brain Anterior Caudate	brain
32	chr16:12652600-12665800	Weak transcription	Brain Angular Gyrus	brain
33	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
34	chr16:12652800-12663400	Weak transcription	Brain Substantia Nigra	brain
35	chr16:12653200-12659200	Weak transcription	Adipose Nuclei	Adipose
36	chr16:12653200-12662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:12653200-12667600	Weak transcription	Brain Hippocampus Middle	brain
38	chr16:12653200-12669200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr16:12653400-12659800	Weak transcription	Ovary	ovary
40	chr16:12653600-12659000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:12653600-12662400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:12653600-12662600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:12653600-12663200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:12653800-12662600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:12653800-12665800	Weak transcription	NHDF-Ad	bronchial

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