Variant report

Variant	rs3782222
Chromosome Location	chr12:117798679-117798680
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11068453	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068454	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11609784	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613900	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509231	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3814246	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs939473	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455724	chr12:117786105-117845806	Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv560385	chr12:117786105-117845806	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3433275	chr12:117796919-117800317	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117796400-117800400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:117797000-117799600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:117797000-117799600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:117797200-117799800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr12:117797200-117800000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr12:117797200-117801400	Bivalent Enhancer	Fetal Brain Male	brain
7	chr12:117797400-117799600	Active TSS	Brain Anterior Caudate	brain
8	chr12:117797600-117799800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr12:117797800-117799000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:117797800-117799200	Bivalent/Poised TSS	A549	lung
11	chr12:117797800-117799400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:117797800-117799400	Active TSS	NHEK	skin
13	chr12:117797800-117799600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:117797800-117799600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:117798000-117799000	Bivalent Enhancer	Liver	Liver
16	chr12:117798000-117799000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr12:117798000-117799400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr12:117798000-117799400	Bivalent/Poised TSS	Esophagus	oesophagus
19	chr12:117798000-117799600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:117798000-117800000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:117798200-117799000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
22	chr12:117798200-117799200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:117798200-117799200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:117798200-117799400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr12:117798200-117799400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:117798200-117799400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:117798200-117799400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
28	chr12:117798200-117799400	Bivalent/Poised TSS	Fetal Brain Female	brain
29	chr12:117798200-117799600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
30	chr12:117798200-117799600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
31	chr12:117798400-117798800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
32	chr12:117798400-117798800	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr12:117798400-117798800	Flanking Active TSS	Pancreas	Pancrea
34	chr12:117798400-117798800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
35	chr12:117798400-117798800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
36	chr12:117798400-117799000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:117798400-117799000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
38	chr12:117798400-117799000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
39	chr12:117798400-117799000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
40	chr12:117798400-117799200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
41	chr12:117798400-117799200	Bivalent/Poised TSS	Right Atrium	heart
42	chr12:117798400-117799400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:117798400-117799400	Active TSS	Psoas Muscle	Psoas
44	chr12:117798400-117799600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
45	chr12:117798600-117798800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:117798600-117798800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr12:117798600-117798800	Bivalent Enhancer	Placenta	Placenta
48	chr12:117798600-117798800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr12:117798600-117798800	Flanking Bivalent TSS/Enh	Lung	lung
50	chr12:117798600-117798800	Bivalent/Poised TSS	HUVEC	blood vessel

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