Variant report

Variant	rs12320168
Chromosome Location	chr12:45639105-45639106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1015626	0.93[GIH][hapmap];0.86[JPT][hapmap]
rs10437984	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10459293	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs10459294	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs10492284	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs10748412	0.92[ASN][1000 genomes]
rs10785556	1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs10785557	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785566	0.93[GIH][hapmap];0.86[JPT][hapmap]
rs10880755	0.86[JPT][hapmap]
rs10880760	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880761	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880762	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880763	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880764	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182903	0.81[EUR][1000 genomes]
rs11182904	1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11182905	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11182908	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11182912	0.89[EUR][1000 genomes]
rs11182913	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11182916	0.89[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11182917	0.91[EUR][1000 genomes]
rs11182918	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182919	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs11182921	0.91[EUR][1000 genomes]
rs11182922	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11182923	0.91[EUR][1000 genomes]
rs11182927	0.89[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11182931	0.89[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11182935	0.91[EUR][1000 genomes]
rs11182936	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182938	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182939	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182940	0.91[EUR][1000 genomes]
rs11182941	0.91[EUR][1000 genomes]
rs11182942	0.81[EUR][1000 genomes]
rs11182943	0.91[EUR][1000 genomes]
rs11182944	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182946	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182947	0.89[EUR][1000 genomes]
rs11182949	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11561532	0.91[EUR][1000 genomes]
rs11610233	0.81[EUR][1000 genomes]
rs11611509	0.81[EUR][1000 genomes]
rs11612203	0.91[EUR][1000 genomes]
rs11612233	0.89[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11615850	0.91[EUR][1000 genomes]
rs12226944	0.82[EUR][1000 genomes]
rs12227678	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs12228733	0.81[EUR][1000 genomes]
rs12230322	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.89[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12231753	0.90[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12299174	0.81[EUR][1000 genomes]
rs12320437	0.89[EUR][1000 genomes]
rs12322087	0.81[EUR][1000 genomes]
rs12814332	0.89[EUR][1000 genomes]
rs12815115	0.91[EUR][1000 genomes]
rs12815577	0.87[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[ASN][1000 genomes]
rs12822746	0.91[EUR][1000 genomes]
rs12828052	0.85[EUR][1000 genomes]
rs17095551	0.91[EUR][1000 genomes]
rs17095557	0.89[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs1913692	0.86[JPT][hapmap]
rs2052602	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2052603	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2408184	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2408185	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs34024171	0.91[EUR][1000 genomes]
rs35054776	0.89[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs35588430	0.81[EUR][1000 genomes]
rs35660715	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759077	0.91[EUR][1000 genomes]
rs3759080	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759081	0.91[EUR][1000 genomes]
rs3759082	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs3782131	0.89[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs4768085	0.87[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4768601	0.80[JPT][hapmap]
rs57797434	0.91[EUR][1000 genomes]
rs58444879	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61923810	0.91[EUR][1000 genomes]
rs61923825	0.91[EUR][1000 genomes]
rs61923830	0.91[EUR][1000 genomes]
rs7138247	0.89[GIH][hapmap];0.86[JPT][hapmap]
rs7138983	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs728590	0.86[JPT][hapmap]
rs7304481	0.87[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7307262	0.85[GIH][hapmap];0.86[JPT][hapmap]
rs7309615	0.93[GIH][hapmap];0.86[JPT][hapmap]
rs7954282	0.88[MEX][hapmap]
rs7956033	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7963038	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7963057	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7965430	0.89[GIH][hapmap];0.86[JPT][hapmap]
rs7971900	0.86[JPT][hapmap]
rs9739519	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45614400-45639600	Weak transcription	Dnd41	blood
2	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:45627400-45650600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:45629800-45640000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:45629800-45640200	Weak transcription	Gastric	stomach
6	chr12:45629800-45640400	Weak transcription	Ovary	ovary
7	chr12:45629800-45641400	Weak transcription	Left Ventricle	heart
8	chr12:45629800-45642600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:45629800-45642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:45629800-45651000	Weak transcription	K562	blood
11	chr12:45629800-45651400	Weak transcription	Fetal Intestine Large	intestine
12	chr12:45629800-45652400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:45630000-45640200	Weak transcription	Fetal Lung	lung
14	chr12:45630000-45647800	Weak transcription	Right Ventricle	heart
15	chr12:45630000-45648600	Weak transcription	NHEK	skin
16	chr12:45630000-45651000	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:45630000-45651000	Weak transcription	HepG2	liver
18	chr12:45630000-45653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:45630400-45641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:45635600-45640200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:45636000-45651000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:45636200-45641400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:45636200-45647400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:45636200-45651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:45636200-45652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:45636200-45653400	Weak transcription	Thymus	Thymus
27	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:45636400-45640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:45636400-45643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:45636400-45647800	Weak transcription	Fetal Stomach	stomach
31	chr12:45636400-45648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:45636400-45650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:45636400-45650400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:45636400-45651000	Weak transcription	Pancreas	Pancrea
35	chr12:45636400-45652200	Weak transcription	Fetal Intestine Small	intestine
36	chr12:45636400-45653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:45637200-45640600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:45638000-45639400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:45638400-45639600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr12:45638400-45640600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:45638600-45639600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:45638600-45640600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:45638800-45639600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:45638800-45640000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:45638800-45640200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:45638800-45640200	Enhancers	Colon Smooth Muscle	Colon
47	chr12:45638800-45640200	Enhancers	Osteobl	bone
48	chr12:45638800-45640600	Weak transcription	Lung	lung
49	chr12:45638800-45640600	Enhancers	NHLF	lung
50	chr12:45638800-45641000	Weak transcription	A549	lung

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