Variant report

Variant	rs11561532
Chromosome Location	chr12:45632774-45632775
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10437984	0.91[EUR][1000 genomes]
rs10459293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10459294	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10459295	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10492284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10785556	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785557	0.91[EUR][1000 genomes]
rs10880757	0.83[ASN][1000 genomes]
rs10880758	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10880760	0.91[EUR][1000 genomes]
rs10880761	0.89[EUR][1000 genomes]
rs10880762	0.91[EUR][1000 genomes]
rs10880763	0.91[EUR][1000 genomes]
rs10880764	0.91[EUR][1000 genomes]
rs10880765	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10880766	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10880768	0.80[AMR][1000 genomes]
rs11182898	0.89[ASN][1000 genomes]
rs11182899	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182903	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182904	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182905	0.81[EUR][1000 genomes]
rs11182908	0.81[EUR][1000 genomes]
rs11182912	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182913	0.91[EUR][1000 genomes]
rs11182916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182918	0.91[EUR][1000 genomes]
rs11182919	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182921	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182922	0.91[EUR][1000 genomes]
rs11182923	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182927	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182935	1.00[EUR][1000 genomes];1.00[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];0.93[ASN][1000 genomes]
rs11182941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182942	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182943	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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];0.98[ASN][1000 genomes]
rs11182949	0.89[EUR][1000 genomes]
rs11182953	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11182954	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11182955	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11182957	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11182961	0.80[AMR][1000 genomes]
rs11182965	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	0.80[AMR][1000 genomes]
rs11610233	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11611509	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11612203	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11612233	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11614082	0.80[AMR][1000 genomes]
rs11614089	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11615850	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12226944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12227678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12228399	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12228733	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12230322	0.91[EUR][1000 genomes]
rs12231753	0.81[EUR][1000 genomes]
rs12299174	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12320168	0.91[EUR][1000 genomes]
rs12320437	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12322087	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12814332	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12815115	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12815334	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12815723	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12818421	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12822746	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12828052	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17095551	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17095557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2052602	0.91[EUR][1000 genomes]
rs2052603	0.89[EUR][1000 genomes]
rs2408184	0.91[EUR][1000 genomes]
rs2408185	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34024171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34759896	0.80[AMR][1000 genomes]
rs35032811	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35054776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35400022	0.80[AMR][1000 genomes]
rs35588430	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35660715	0.91[EUR][1000 genomes]
rs3759077	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759080	0.91[EUR][1000 genomes]
rs3759081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759082	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3782131	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57560057	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57797434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61923810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61923825	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61923830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138983	0.87[EUR][1000 genomes]
rs7954282	0.89[ASN][1000 genomes]
rs7963038	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45613800-45635800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:45613800-45638000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:45613800-45638200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:45614000-45637600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:45614400-45639600	Weak transcription	Dnd41	blood
6	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
7	chr12:45625400-45635600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:45627400-45650600	Weak transcription	Primary B cells from cord blood	blood
9	chr12:45629200-45636200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:45629400-45636000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:45629600-45635600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:45629800-45635200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:45629800-45635600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:45629800-45635600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:45629800-45635600	Weak transcription	Esophagus	oesophagus
16	chr12:45629800-45635600	Weak transcription	Fetal Intestine Small	intestine
17	chr12:45629800-45635600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:45629800-45635600	Weak transcription	Psoas Muscle	Psoas
19	chr12:45629800-45635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:45629800-45635800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:45629800-45635800	Weak transcription	Thymus	Thymus
22	chr12:45629800-45636000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:45629800-45637600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:45629800-45638000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:45629800-45638000	Weak transcription	Liver	Liver
26	chr12:45629800-45638400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:45629800-45638400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:45629800-45638600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:45629800-45638600	Weak transcription	Spleen	Spleen
30	chr12:45629800-45640000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:45629800-45640200	Weak transcription	Gastric	stomach
32	chr12:45629800-45640400	Weak transcription	Ovary	ovary
33	chr12:45629800-45641400	Weak transcription	Left Ventricle	heart
34	chr12:45629800-45642600	Weak transcription	Brain Substantia Nigra	brain
35	chr12:45629800-45642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:45629800-45651000	Weak transcription	K562	blood
37	chr12:45629800-45651400	Weak transcription	Fetal Intestine Large	intestine
38	chr12:45629800-45652400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:45630000-45633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:45630000-45633600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:45630000-45635600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:45630000-45635600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:45630000-45635600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:45630000-45635600	Weak transcription	Adipose Nuclei	Adipose
45	chr12:45630000-45635600	Weak transcription	Aorta	Aorta
46	chr12:45630000-45635600	Weak transcription	Fetal Stomach	stomach
47	chr12:45630000-45635600	Weak transcription	Fetal Thymus	thymus
48	chr12:45630000-45635800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:45630000-45636800	Weak transcription	GM12878-XiMat	blood
50	chr12:45630000-45638200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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