Variant report

Variant	rs2270793
Chromosome Location	chr12:117484336-117484337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10850753	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11068245	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap]
rs11068247	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs11068258	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs11068259	1.00[CEU][hapmap]
rs11068262	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap]
rs11068280	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap]
rs11068282	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11068286	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11068302	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068303	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068310	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12368874	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17583145	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap]
rs17616662	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs2242469	0.83[JPT][hapmap]
rs2270792	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2291912	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782189	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3782190	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3803089	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs4347476	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs59578958	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7136629	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs7297446	0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7978721	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117467400-117486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:117476400-117484600	Weak transcription	Dnd41	blood
3	chr12:117477400-117484800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:117479600-117488000	Enhancers	Fetal Heart	heart
5	chr12:117480400-117485800	Weak transcription	Right Atrium	heart
6	chr12:117480600-117485800	Weak transcription	Ovary	ovary
7	chr12:117480600-117486200	Weak transcription	Esophagus	oesophagus
8	chr12:117481200-117485600	Weak transcription	A549	lung
9	chr12:117481200-117485600	Weak transcription	Hela-S3	cervix
10	chr12:117481400-117486000	Weak transcription	Stomach Mucosa	stomach
11	chr12:117482000-117484600	Enhancers	Left Ventricle	heart
12	chr12:117482200-117484400	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:117482200-117485000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr12:117482400-117484400	Enhancers	Fetal Thymus	thymus
15	chr12:117482600-117484400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:117482600-117484600	Enhancers	Fetal Brain Male	brain
17	chr12:117482800-117484400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:117482800-117484400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:117482800-117484400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:117482800-117484400	Enhancers	Fetal Intestine Small	intestine
21	chr12:117482800-117484600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:117483000-117484400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:117483000-117484400	Enhancers	Placenta	Placenta
24	chr12:117483000-117485000	Enhancers	Right Ventricle	heart
25	chr12:117483400-117484400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:117483400-117484600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:117483400-117485000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:117483600-117484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:117483600-117484600	Enhancers	Brain Germinal Matrix	brain
30	chr12:117483600-117486000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:117483600-117486000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:117483600-117486000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:117483600-117489200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:117483800-117484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:117483800-117484400	Enhancers	Fetal Brain Female	brain
36	chr12:117483800-117484400	Weak transcription	Thymus	Thymus
37	chr12:117483800-117485000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:117483800-117485800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:117483800-117485800	Weak transcription	Fetal Lung	lung
40	chr12:117483800-117486000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:117483800-117487000	Genic enhancers	Spleen	Spleen
42	chr12:117483800-117488400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:117483800-117498000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:117483800-117498200	Weak transcription	Brain Angular Gyrus	brain
45	chr12:117483800-117498200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:117484000-117484600	Enhancers	Lung	lung
47	chr12:117484000-117485000	Strong transcription	Pancreas	Pancrea
48	chr12:117484000-117485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:117484000-117485800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:117484000-117485800	Weak transcription	Fetal Muscle Leg	muscle

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