Variant report

Variant	rs12227678
Chromosome Location	chr12:45642810-45642811
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1025090	0.82[JPT][hapmap]
rs10437984	0.91[EUR][1000 genomes]
rs10459293	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10459294	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10459295	0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10492284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785556	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10785557	0.91[EUR][1000 genomes]
rs10785569	0.80[JPT][hapmap]
rs10880757	0.87[JPT][hapmap]
rs10880758	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10880760	0.91[EUR][1000 genomes]
rs10880761	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs10880762	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs10880763	0.91[EUR][1000 genomes]
rs10880764	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs10880765	0.83[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10880766	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10880768	0.80[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes]
rs11182898	0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11182899	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11182903	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11182904	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11182905	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs11182908	0.81[EUR][1000 genomes]
rs11182912	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11182913	0.91[EUR][1000 genomes]
rs11182916	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182918	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs11182919	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11182921	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182922	0.91[EUR][1000 genomes]
rs11182923	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11182927	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182931	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182935	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182936	0.91[EUR][1000 genomes]
rs11182938	0.91[EUR][1000 genomes]
rs11182939	0.91[EUR][1000 genomes]
rs11182940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182942	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182944	0.91[EUR][1000 genomes]
rs11182946	0.91[EUR][1000 genomes]
rs11182947	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182949	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs11182953	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182954	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182955	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182957	0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11182961	0.94[JPT][hapmap];0.80[AMR][1000 genomes]
rs11182965	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs11182966	0.80[AMR][1000 genomes]
rs11182969	0.80[AMR][1000 genomes]
rs11182970	0.80[AMR][1000 genomes]
rs11182973	0.80[AMR][1000 genomes]
rs11182974	0.80[AMR][1000 genomes]
rs11182981	0.94[JPT][hapmap];0.80[AMR][1000 genomes]
rs11182986	0.80[JPT][hapmap]
rs11182988	0.80[JPT][hapmap]
rs11561532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11610233	0.89[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11611509	0.89[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11612203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11612233	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11614082	0.94[JPT][hapmap];0.80[AMR][1000 genomes]
rs11614089	0.80[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11615850	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12226944	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12228399	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12228733	0.89[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12230322	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs12231753	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs12299174	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12320168	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs12320437	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12322087	0.89[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12814332	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12815115	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12815334	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12815723	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12818421	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12822746	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12828052	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17095551	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17095557	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2052602	0.91[EUR][1000 genomes]
rs2052603	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs2408184	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2408185	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34024171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34759896	0.80[AMR][1000 genomes]
rs35032811	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35054776	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35400022	0.80[AMR][1000 genomes]
rs35588430	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35660715	0.91[EUR][1000 genomes]
rs3759077	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759080	0.91[EUR][1000 genomes]
rs3759081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759082	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3782131	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57560057	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57797434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61923810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61923825	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61923830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7138983	0.87[EUR][1000 genomes]
rs7954282	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7963038	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs7963057	0.91[EUR][1000 genomes]
rs9739519	0.91[EUR][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:45627400-45650600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:45629800-45651000	Weak transcription	K562	blood
4	chr12:45629800-45651400	Weak transcription	Fetal Intestine Large	intestine
5	chr12:45629800-45652400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:45630000-45647800	Weak transcription	Right Ventricle	heart
7	chr12:45630000-45648600	Weak transcription	NHEK	skin
8	chr12:45630000-45651000	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:45630000-45651000	Weak transcription	HepG2	liver
10	chr12:45630000-45653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:45636000-45651000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:45636200-45647400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:45636200-45651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:45636200-45652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:45636200-45653400	Weak transcription	Thymus	Thymus
16	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:45636400-45643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:45636400-45647800	Weak transcription	Fetal Stomach	stomach
19	chr12:45636400-45648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:45636400-45650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:45636400-45650400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:45636400-45651000	Weak transcription	Pancreas	Pancrea
23	chr12:45636400-45652200	Weak transcription	Fetal Intestine Small	intestine
24	chr12:45636400-45653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:45638800-45643400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:45638800-45650200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:45638800-45650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:45638800-45650800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:45638800-45650800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:45638800-45651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:45638800-45652200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:45638800-45652200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:45639000-45643600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:45639000-45645000	Weak transcription	Fetal Thymus	thymus
35	chr12:45639000-45648000	Weak transcription	Small Intestine	intestine
36	chr12:45639000-45649600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:45639000-45650800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:45639000-45651000	Weak transcription	Spleen	Spleen
39	chr12:45639000-45653200	Weak transcription	Placenta	Placenta
40	chr12:45639000-45653600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:45639400-45650200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:45639400-45650600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:45639600-45645200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:45640200-45643600	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:45640600-45643200	Weak transcription	Liver	Liver
46	chr12:45640600-45647000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:45640600-45648000	Weak transcription	NHLF	lung
48	chr12:45640600-45650800	Weak transcription	Adipose Nuclei	Adipose
49	chr12:45641600-45646600	Weak transcription	A549	lung
50	chr12:45641600-45651000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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