Variant report

Variant	rs4781207
Chromosome Location	chr16:12439370-12439371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11075061	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11641317	0.83[EUR][1000 genomes]
rs11645864	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11648255	0.89[EUR][1000 genomes]
rs11648926	0.93[EUR][1000 genomes]
rs11861914	0.81[EUR][1000 genomes]
rs12102400	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12102608	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs158467	0.82[EUR][1000 genomes]
rs16959318	0.91[EUR][1000 genomes]
rs176717	0.81[EUR][1000 genomes]
rs1995587	0.84[CEU][hapmap]
rs209836	0.81[EUR][1000 genomes]
rs209846	0.90[EUR][1000 genomes]
rs209849	0.82[EUR][1000 genomes]
rs209850	0.82[EUR][1000 genomes]
rs209851	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs209853	0.84[EUR][1000 genomes]
rs209855	0.82[EUR][1000 genomes]
rs209856	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2856771	0.84[EUR][1000 genomes]
rs289673	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs31679	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476267	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4780422	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4780423	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4781205	0.83[EUR][1000 genomes]
rs4781208	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4781209	0.91[CHB][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs512286	0.81[EUR][1000 genomes]
rs544598	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs544673	0.81[EUR][1000 genomes]
rs62039994	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6498278	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6498279	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7184477	0.87[EUR][1000 genomes]
rs7190509	0.91[CHB][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7195981	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7197417	0.80[EUR][1000 genomes]
rs7200289	0.87[CEU][hapmap]
rs7201621	0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs8051010	0.83[EUR][1000 genomes]
rs8051758	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8063991	0.81[EUR][1000 genomes]
rs869289	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs9284322	0.88[CEU][hapmap];0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9302469	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9939036	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[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:47 , 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	chr16:12425200-12442200	Weak transcription	Psoas Muscle	Psoas
6	chr16:12425400-12442000	Weak transcription	GM12878-XiMat	blood
7	chr16:12426800-12447200	Weak transcription	Lung	lung
8	chr16:12428400-12442400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:12428400-12461200	Weak transcription	Thymus	Thymus
10	chr16:12434400-12450600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr16:12434600-12460200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:12435000-12441800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr16:12435600-12442200	Weak transcription	Ovary	ovary
14	chr16:12435800-12442400	Weak transcription	Esophagus	oesophagus
15	chr16:12435800-12454800	Weak transcription	Pancreas	Pancrea
16	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:12436000-12450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:12436000-12452400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:12436200-12450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:12436200-12456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:12436600-12442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr16:12436800-12447000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr16:12437400-12442000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:12437400-12442200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:12437400-12442200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr16:12437400-12442400	Weak transcription	Fetal Muscle Leg	muscle
27	chr16:12437400-12456600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr16:12437600-12442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:12437600-12456200	Weak transcription	Right Atrium	heart
30	chr16:12438000-12439800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr16:12438200-12440000	Enhancers	Brain Substantia Nigra	brain
32	chr16:12438200-12440200	Enhancers	Brain Cingulate Gyrus	brain
33	chr16:12438400-12439800	Enhancers	Brain Anterior Caudate	brain
34	chr16:12438600-12439400	Enhancers	Adipose Nuclei	Adipose
35	chr16:12438600-12439400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr16:12438600-12448200	Weak transcription	Brain Angular Gyrus	brain
37	chr16:12438800-12439400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr16:12438800-12440000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr16:12438800-12456400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:12439000-12439400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:12439000-12439600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:12439000-12450000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr16:12439200-12439600	Enhancers	Brain Hippocampus Middle	brain
44	chr16:12439200-12439800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:12439200-12440200	Weak transcription	Primary T cells from cord blood	blood
46	chr16:12439200-12440400	Weak transcription	Primary B cells from cord blood	blood
47	chr16:12439200-12450000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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