Variant report

Variant	rs11648747
Chromosome Location	chr16:12484806-12484807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12479812..12482629-chr16:12484351..12486474,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11640118	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11642299	0.94[EUR][1000 genomes]
rs11644239	0.94[EUR][1000 genomes]
rs11647914	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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
6	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1736	chr16:12477807-12522707	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1046002	chr16:12482003-12510643	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	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
11	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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12444800-12491400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr16:12457000-12492400	Weak transcription	Lung	lung
3	chr16:12457400-12497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr16:12457600-12491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:12457600-12497400	Weak transcription	Spleen	Spleen
6	chr16:12461200-12490200	Weak transcription	GM12878-XiMat	blood
7	chr16:12470200-12497400	Weak transcription	Left Ventricle	heart
8	chr16:12471000-12486000	Weak transcription	HSMMtube	muscle
9	chr16:12471200-12494200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr16:12471400-12485800	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:12471800-12493400	Weak transcription	Aorta	Aorta
12	chr16:12471800-12495800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr16:12471800-12499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:12472200-12486000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:12473800-12493800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
17	chr16:12478600-12497400	Weak transcription	Pancreas	Pancrea
18	chr16:12479200-12486600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr16:12480200-12491800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr16:12480200-12493600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:12480400-12485400	Weak transcription	Brain Hippocampus Middle	brain
22	chr16:12480600-12486400	Weak transcription	HSMM	muscle
23	chr16:12480800-12486200	Weak transcription	Fetal Muscle Leg	muscle
24	chr16:12480800-12487200	Weak transcription	Brain Angular Gyrus	brain
25	chr16:12480800-12491600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:12480800-12497400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr16:12481800-12496800	Weak transcription	Esophagus	oesophagus
28	chr16:12482000-12486400	Weak transcription	Primary T cells from cord blood	blood
29	chr16:12482000-12486600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr16:12482400-12510400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:12482800-12486000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:12483400-12486400	Enhancers	Ovary	ovary
33	chr16:12483600-12485200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:12484000-12485000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:12484000-12485200	Enhancers	NHDF-Ad	bronchial
36	chr16:12484000-12485400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr16:12484000-12487600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:12484200-12485000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:12484200-12485000	Enhancers	NH-A	brain
40	chr16:12484200-12485000	Enhancers	NHLF	lung
41	chr16:12484200-12485200	Enhancers	Osteobl	bone
42	chr16:12484200-12485400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:12484400-12485000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:12484400-12485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr16:12484400-12485200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:12484400-12487000	Weak transcription	Fetal Brain Male	brain
47	chr16:12484400-12487600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:12484600-12485400	Weak transcription	Primary B cells from cord blood	blood
49	chr16:12484600-12486000	Weak transcription	Brain Substantia Nigra	brain
50	chr16:12484600-12493200	Weak transcription	Fetal Stomach	stomach

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