Variant report

Variant	rs386789062
Chromosome Location	chr16:12107270-12107271
allele	GC/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	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
4	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	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
6	esv3360290	chr16:12106276-12108824	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
7	esv3394654	chr16:12106501-12108749	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12071400-12130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:12071800-12140200	Weak transcription	Fetal Intestine Small	intestine
3	chr16:12079600-12109600	Weak transcription	Gastric	stomach
4	chr16:12085400-12118200	Weak transcription	Esophagus	oesophagus
5	chr16:12088600-12109200	Weak transcription	Fetal Kidney	kidney
6	chr16:12088600-12110000	Weak transcription	NH-A	brain
7	chr16:12088800-12108200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr16:12088800-12115400	Weak transcription	Placenta	Placenta
9	chr16:12092400-12110200	Weak transcription	NHEK	skin
10	chr16:12092600-12107800	Weak transcription	Liver	Liver
11	chr16:12094200-12110000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:12096800-12110000	Weak transcription	Osteobl	bone
13	chr16:12096800-12111800	Weak transcription	Ovary	ovary
14	chr16:12097000-12107800	Weak transcription	Fetal Lung	lung
15	chr16:12097000-12109400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:12097200-12107800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:12097600-12110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:12098400-12136000	Weak transcription	Fetal Stomach	stomach
19	chr16:12098600-12109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:12098600-12118200	Weak transcription	Pancreas	Pancrea
21	chr16:12099000-12109400	Weak transcription	Brain Germinal Matrix	brain
22	chr16:12099400-12108200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr16:12099400-12118400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:12099600-12111800	Weak transcription	Fetal Muscle Leg	muscle
25	chr16:12099600-12112600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr16:12099600-12135200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr16:12099600-12141200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr16:12101400-12110200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:12101800-12110000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:12101800-12111600	Weak transcription	HSMMtube	muscle
31	chr16:12101800-12121400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:12101800-12123600	Weak transcription	Lung	lung
33	chr16:12101800-12129800	Weak transcription	Aorta	Aorta
34	chr16:12102000-12124200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr16:12104200-12107400	Enhancers	Primary B cells from peripheral blood	blood
36	chr16:12104200-12111600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr16:12104400-12109800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:12104600-12109400	Weak transcription	Left Ventricle	heart
39	chr16:12104600-12110600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:12104600-12116400	Weak transcription	Brain Hippocampus Middle	brain
41	chr16:12104800-12110200	Weak transcription	NHLF	lung
42	chr16:12105000-12109800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:12105000-12110200	Weak transcription	GM12878-XiMat	blood
44	chr16:12105000-12120600	Weak transcription	Brain Substantia Nigra	brain
45	chr16:12105200-12107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:12105200-12108000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr16:12105200-12110200	Weak transcription	NHDF-Ad	bronchial
48	chr16:12105200-12142200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr16:12105400-12107800	Weak transcription	Adipose Nuclei	Adipose
50	chr16:12105400-12120800	Weak transcription	Fetal Thymus	thymus

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