Variant report

Variant	rs533251552
Chromosome Location	chr16:12667102-12667103
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12666208..12667949-chr16:12909884..12912499,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	nsv437802	chr16:12667076-12708294	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

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	chr16:12648400-12668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr16:12652200-12669200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
5	chr16:12653200-12667600	Weak transcription	Brain Hippocampus Middle	brain
6	chr16:12653200-12669200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr16:12661200-12667400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:12661400-12668200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr16:12661800-12667200	Weak transcription	HSMMtube	muscle
10	chr16:12661800-12667600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:12661800-12670400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:12662000-12667400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:12662000-12667400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr16:12662000-12667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr16:12662800-12672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:12663000-12669200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr16:12663800-12667400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr16:12664000-12667200	Weak transcription	Fetal Muscle Leg	muscle
19	chr16:12664000-12670600	Weak transcription	Gastric	stomach
20	chr16:12664200-12667600	Weak transcription	Fetal Stomach	stomach
21	chr16:12664200-12668200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:12664200-12669400	Weak transcription	Brain Substantia Nigra	brain
23	chr16:12664400-12668600	Weak transcription	Esophagus	oesophagus
24	chr16:12664600-12667400	Weak transcription	Adipose Nuclei	Adipose
25	chr16:12664600-12667800	Weak transcription	Primary T cells from cord blood	blood
26	chr16:12664600-12667800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:12664600-12668000	Weak transcription	Fetal Intestine Small	intestine
28	chr16:12664600-12668800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:12664600-12669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:12664600-12670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr16:12665000-12667800	Weak transcription	HepG2	liver
32	chr16:12665000-12669200	Weak transcription	Aorta	Aorta
33	chr16:12665000-12670600	Weak transcription	Spleen	Spleen
34	chr16:12665200-12669000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:12665400-12667800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr16:12665400-12668600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:12665600-12668800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr16:12665800-12668400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:12666400-12668000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:12666400-12668200	Enhancers	Primary B cells from peripheral blood	blood
41	chr16:12666600-12667200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr16:12666800-12668400	Enhancers	Primary B cells from cord blood	blood
43	chr16:12667000-12667200	Enhancers	Placenta	Placenta
44	chr16:12667000-12667400	Enhancers	GM12878-XiMat	blood
45	chr16:12667000-12667800	Enhancers	Fetal Thymus	thymus

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