Variant report

Variant	rs58203085
Chromosome Location	chr16:12666140-12666141
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	chr16:12664367..12666728-chr16:12670658..12673027,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57254313	1.00[AMR][1000 genomes]
rs58738016	1.00[AMR][1000 genomes]
rs61179416	1.00[AMR][1000 genomes]
rs73508563	1.00[AMR][1000 genomes]
rs73508577	1.00[AMR][1000 genomes]
rs74011110	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
9	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
10	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
11	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
12	nsv1049011	chr16:12655176-12672143	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv9349	chr16:12656022-12674639	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12641200-12667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:12648400-12668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr16:12652200-12669200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:12652400-12666400	Weak transcription	Brain Anterior Caudate	brain
6	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
7	chr16:12653200-12667600	Weak transcription	Brain Hippocampus Middle	brain
8	chr16:12653200-12669200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:12660000-12666200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr16:12660600-12666600	Strong transcription	Primary B cells from cord blood	blood
11	chr16:12660800-12666400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:12661200-12667000	Weak transcription	Fetal Lung	lung
13	chr16:12661200-12667400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:12661400-12668200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr16:12661800-12667200	Weak transcription	HSMMtube	muscle
16	chr16:12661800-12667600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr16:12661800-12670400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:12662000-12667400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr16:12662000-12667400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr16:12662000-12667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr16:12662800-12672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:12663000-12669200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr16:12663400-12666800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:12663600-12667000	Weak transcription	Placenta	Placenta
25	chr16:12663600-12667000	Weak transcription	GM12878-XiMat	blood
26	chr16:12663800-12667400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr16:12664000-12667000	Weak transcription	Fetal Thymus	thymus
28	chr16:12664000-12667200	Weak transcription	Fetal Muscle Leg	muscle
29	chr16:12664000-12670600	Weak transcription	Gastric	stomach
30	chr16:12664200-12667600	Weak transcription	Fetal Stomach	stomach
31	chr16:12664200-12668200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:12664200-12669400	Weak transcription	Brain Substantia Nigra	brain
33	chr16:12664400-12666600	Weak transcription	Ovary	ovary
34	chr16:12664400-12666800	Weak transcription	Lung	lung
35	chr16:12664400-12668600	Weak transcription	Esophagus	oesophagus
36	chr16:12664600-12666400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:12664600-12666400	Weak transcription	Thymus	Thymus
38	chr16:12664600-12667400	Weak transcription	Adipose Nuclei	Adipose
39	chr16:12664600-12667800	Weak transcription	Primary T cells from cord blood	blood
40	chr16:12664600-12667800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:12664600-12668000	Weak transcription	Fetal Intestine Small	intestine
42	chr16:12664600-12668800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:12664600-12669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:12664600-12670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr16:12664800-12667000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr16:12665000-12667800	Weak transcription	HepG2	liver
47	chr16:12665000-12669200	Weak transcription	Aorta	Aorta
48	chr16:12665000-12670600	Weak transcription	Spleen	Spleen
49	chr16:12665200-12669000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr16:12665400-12667800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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