Variant report

Variant	rs1861645
Chromosome Location	chr16:12556266-12556267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1641832	1.00[AMR][1000 genomes]
rs4781216	1.00[AMR][1000 genomes]
rs4781241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7201457	1.00[AMR][1000 genomes]
rs929899	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1036612	chr16:12518604-12565232	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12498400-12564600	Weak transcription	Esophagus	oesophagus
2	chr16:12528800-12564400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:12530400-12577600	Weak transcription	Pancreas	Pancrea
4	chr16:12544000-12556600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:12545000-12594600	Weak transcription	Gastric	stomach
6	chr16:12545600-12564000	Weak transcription	Ovary	ovary
7	chr16:12547200-12564200	Weak transcription	Aorta	Aorta
8	chr16:12547400-12564800	Weak transcription	Right Atrium	heart
9	chr16:12549000-12556600	Weak transcription	Right Ventricle	heart
10	chr16:12551000-12556600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:12552200-12562800	Weak transcription	Fetal Stomach	stomach
12	chr16:12553200-12562400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:12553200-12591200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr16:12553400-12561600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:12553400-12564200	Weak transcription	Lung	lung
16	chr16:12553600-12572600	Weak transcription	Thymus	Thymus
17	chr16:12553800-12556600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:12553800-12562400	Weak transcription	Placenta	Placenta
19	chr16:12554000-12556400	Weak transcription	Fetal Muscle Leg	muscle
20	chr16:12554000-12562600	Weak transcription	Spleen	Spleen
21	chr16:12554200-12556600	Weak transcription	Adipose Nuclei	Adipose
22	chr16:12554200-12562400	Weak transcription	GM12878-XiMat	blood
23	chr16:12554200-12568600	Weak transcription	Primary B cells from cord blood	blood
24	chr16:12554200-12571000	Weak transcription	Primary T cells from cord blood	blood
25	chr16:12554600-12582400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr16:12554800-12585000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr16:12554800-12596000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr16:12555000-12556800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr16:12555200-12556600	Weak transcription	Brain Substantia Nigra	brain
30	chr16:12555400-12556600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:12555400-12558000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:12555600-12556800	Weak transcription	Osteobl	bone
33	chr16:12555600-12590000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:12556000-12556400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:12556000-12556600	Enhancers	HSMMtube	muscle
36	chr16:12556000-12557000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:12556000-12557000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:12556000-12557000	Enhancers	Brain Hippocampus Middle	brain
39	chr16:12556000-12557000	Enhancers	Psoas Muscle	Psoas
40	chr16:12556000-12557000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr16:12556000-12557000	Enhancers	NHDF-Ad	bronchial
42	chr16:12556000-12557200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:12556000-12557200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:12556000-12557200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr16:12556000-12557200	Enhancers	Fetal Heart	heart
46	chr16:12556000-12557200	Enhancers	Left Ventricle	heart
47	chr16:12556000-12557200	Enhancers	HUVEC	blood vessel
48	chr16:12556000-12557200	Enhancers	NH-A	brain
49	chr16:12556200-12556400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr16:12556200-12556600	Weak transcription	Fetal Muscle Trunk	muscle

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