Variant report

Variant	rs1476117
Chromosome Location	chr16:12442286-12442287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11075062	0.89[CHB][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11641317	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11641878	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648926	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12595990	0.83[YRI][hapmap]
rs158467	0.87[EUR][1000 genomes]
rs16959342	0.81[CEU][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs209834	0.86[EUR][1000 genomes]
rs209835	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs209836	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs209839	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs209845	0.87[EUR][1000 genomes]
rs209854	0.82[EUR][1000 genomes]
rs2856770	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4781205	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4781211	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4781214	0.89[CHB][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs512286	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs540972	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs544673	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6498277	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7184369	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs7185731	0.83[YRI][hapmap]
rs7200289	0.84[CHB][hapmap]
rs7202201	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7203117	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051010	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9635495	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv905349	chr16:12408750-12445863	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv571464	chr16:12423557-12449778	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
2	chr16:12405600-12442400	Weak transcription	Spleen	Spleen
3	chr16:12410000-12456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:12410200-12464800	Weak transcription	Gastric	stomach
5	chr16:12426800-12447200	Weak transcription	Lung	lung
6	chr16:12428400-12442400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:12428400-12461200	Weak transcription	Thymus	Thymus
8	chr16:12434400-12450600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:12434600-12460200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:12435800-12442400	Weak transcription	Esophagus	oesophagus
11	chr16:12435800-12454800	Weak transcription	Pancreas	Pancrea
12	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:12436000-12450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:12436000-12452400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:12436200-12450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:12436200-12456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:12436800-12447000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:12437400-12442400	Weak transcription	Fetal Muscle Leg	muscle
19	chr16:12437400-12456600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr16:12437600-12442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr16:12437600-12456200	Weak transcription	Right Atrium	heart
22	chr16:12438600-12448200	Weak transcription	Brain Angular Gyrus	brain
23	chr16:12438800-12456400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:12439000-12450000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr16:12439200-12450000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:12439600-12442400	Weak transcription	Brain Hippocampus Middle	brain
27	chr16:12439600-12452600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:12439800-12442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:12440000-12442400	Weak transcription	Brain Substantia Nigra	brain
30	chr16:12440000-12442600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr16:12440200-12442400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr16:12442000-12442600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr16:12442000-12443200	Enhancers	GM12878-XiMat	blood
34	chr16:12442000-12444000	Weak transcription	Primary T cells from cord blood	blood
35	chr16:12442200-12442400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:12442200-12442800	Enhancers	Adipose Nuclei	Adipose
37	chr16:12442200-12442800	Enhancers	Placenta	Placenta
38	chr16:12442200-12443000	Enhancers	Fetal Muscle Trunk	muscle
39	chr16:12442200-12443000	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr16:12442200-12443200	Enhancers	Ovary	ovary
41	chr16:12442200-12443200	Enhancers	Psoas Muscle	Psoas
42	chr16:12442200-12443400	Enhancers	Primary B cells from cord blood	blood
43	chr16:12442200-12443400	Enhancers	Primary B cells from peripheral blood	blood
44	chr16:12442200-12443400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr16:12442200-12443600	Enhancers	Brain Anterior Caudate	brain
46	chr16:12442200-12444800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr16:12442200-12445000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr16:12442200-12445200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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