Variant report

Variant	rs60522421
Chromosome Location	chr16:12243340-12243341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12241354..12243525-chr16:12245349..12247031,2	K562	blood:
2	chr16:12235977..12239654-chr16:12243100..12246222,3	K562	blood:
3	chr16:12240782..12243525-chr16:12245349..12247044,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56780928	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60185037	0.95[EUR][1000 genomes]
rs60382558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61021038	0.86[EUR][1000 genomes]
rs9673132	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9673762	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1052973	chr16:12188092-12307880	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1042146	chr16:12208242-12256699	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1039590	chr16:12237623-12279574	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12213800-12255400	Weak transcription	Gastric	stomach
2	chr16:12227600-12247000	Weak transcription	Colon Smooth Muscle	Colon
3	chr16:12228600-12243600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr16:12229000-12249000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:12229400-12248000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:12229400-12250600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:12229800-12244400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:12229800-12251400	Weak transcription	NHEK	skin
9	chr16:12229800-12253600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr16:12230000-12245600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr16:12230200-12256200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr16:12231400-12251000	Weak transcription	Ovary	ovary
13	chr16:12231400-12268000	Weak transcription	Pancreas	Pancrea
14	chr16:12232000-12248600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:12233600-12251000	Weak transcription	NHDF-Ad	bronchial
16	chr16:12234600-12244000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr16:12234600-12247600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:12234600-12248600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:12234600-12261600	Weak transcription	Aorta	Aorta
20	chr16:12234600-12265600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:12235400-12251000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:12235800-12243400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:12236200-12243800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:12236200-12249400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:12236200-12250800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:12237600-12243400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr16:12237800-12249600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:12239800-12243400	Enhancers	Fetal Muscle Leg	muscle
29	chr16:12240800-12243600	Enhancers	Fetal Heart	heart
30	chr16:12241200-12245600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr16:12241400-12245600	Enhancers	Fetal Thymus	thymus
32	chr16:12241600-12246200	Enhancers	HepG2	liver
33	chr16:12242000-12244000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:12242200-12243400	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr16:12242200-12243600	Enhancers	Primary T cells from cord blood	blood
36	chr16:12242200-12243600	Weak transcription	Esophagus	oesophagus
37	chr16:12242200-12244000	Weak transcription	Spleen	Spleen
38	chr16:12242200-12246400	Weak transcription	Brain Angular Gyrus	brain
39	chr16:12242200-12248200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:12242200-12248800	Weak transcription	Adipose Nuclei	Adipose
41	chr16:12242200-12251000	Weak transcription	HSMMtube	muscle
42	chr16:12242200-12252400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr16:12242200-12252400	Weak transcription	Left Ventricle	heart
44	chr16:12242200-12252600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr16:12242200-12252600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr16:12242200-12253800	Weak transcription	Right Atrium	heart
47	chr16:12242200-12255200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:12242200-12261600	Weak transcription	Lung	lung
49	chr16:12242200-12262800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr16:12242200-12299400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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