Variant report

Variant	rs8044512
Chromosome Location	chr16:12110541-12110542
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs8045475	0.91[AFR][1000 genomes]
rs8052542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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

No data

Chromatin state (count:54 , 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	chr16:12085400-12118200	Weak transcription	Esophagus	oesophagus
4	chr16:12088800-12115400	Weak transcription	Placenta	Placenta
5	chr16:12096800-12111800	Weak transcription	Ovary	ovary
6	chr16:12098400-12136000	Weak transcription	Fetal Stomach	stomach
7	chr16:12098600-12118200	Weak transcription	Pancreas	Pancrea
8	chr16:12099400-12118400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr16:12099600-12111800	Weak transcription	Fetal Muscle Leg	muscle
10	chr16:12099600-12112600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr16:12099600-12135200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr16:12099600-12141200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr16:12101800-12111600	Weak transcription	HSMMtube	muscle
14	chr16:12101800-12121400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr16:12101800-12123600	Weak transcription	Lung	lung
16	chr16:12101800-12129800	Weak transcription	Aorta	Aorta
17	chr16:12102000-12124200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:12104200-12111600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:12104600-12110600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:12104600-12116400	Weak transcription	Brain Hippocampus Middle	brain
21	chr16:12105000-12120600	Weak transcription	Brain Substantia Nigra	brain
22	chr16:12105200-12142200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr16:12105400-12120800	Weak transcription	Fetal Thymus	thymus
24	chr16:12105800-12115800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:12105800-12120800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr16:12105800-12124200	Weak transcription	Primary T cells from cord blood	blood
27	chr16:12106000-12111000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:12106200-12114800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr16:12106800-12115400	Weak transcription	K562	blood
30	chr16:12108400-12119400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr16:12108600-12128400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:12109800-12111400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:12109800-12111400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:12109800-12111600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:12109800-12118200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:12109800-12124200	Weak transcription	Left Ventricle	heart
37	chr16:12109800-12142200	Weak transcription	Gastric	stomach
38	chr16:12110000-12110600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:12110000-12112000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:12110000-12112000	Enhancers	Osteobl	bone
41	chr16:12110000-12112200	Enhancers	NH-A	brain
42	chr16:12110000-12118400	Enhancers	Primary B cells from peripheral blood	blood
43	chr16:12110200-12110600	Genic enhancers	GM12878-XiMat	blood
44	chr16:12110200-12110800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:12110200-12111000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:12110200-12111000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:12110200-12111000	Enhancers	NHEK	skin
48	chr16:12110200-12111000	Enhancers	NHLF	lung
49	chr16:12110200-12112000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:12110200-12112000	Enhancers	NHDF-Ad	bronchial

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