Variant report

Variant	rs11182947
Chromosome Location	chr12:45649825-45649826
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45647735..45650702-chr12:45991253..45994060,2	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10437984	0.89[EUR][1000 genomes]
rs10459293	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10459294	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10459295	0.85[ASN][1000 genomes]
rs10492284	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10785556	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10785557	0.89[EUR][1000 genomes]
rs10880757	0.81[ASN][1000 genomes]
rs10880758	0.88[ASN][1000 genomes]
rs10880760	0.89[EUR][1000 genomes]
rs10880761	0.87[EUR][1000 genomes]
rs10880762	0.89[EUR][1000 genomes]
rs10880763	0.89[EUR][1000 genomes]
rs10880764	0.89[EUR][1000 genomes]
rs10880765	0.85[ASN][1000 genomes]
rs10880766	0.85[ASN][1000 genomes]
rs10880768	0.80[ASN][1000 genomes]
rs11182898	0.88[ASN][1000 genomes]
rs11182899	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182903	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182904	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182912	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182913	0.89[EUR][1000 genomes]
rs11182916	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182917	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182918	0.89[EUR][1000 genomes]
rs11182919	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182921	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182922	0.89[EUR][1000 genomes]
rs11182923	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182927	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182931	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182935	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182936	0.89[EUR][1000 genomes]
rs11182938	0.89[EUR][1000 genomes]
rs11182939	0.89[EUR][1000 genomes]
rs11182940	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182941	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182942	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182943	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182944	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11182946	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11182949	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11182953	0.92[ASN][1000 genomes]
rs11182954	0.92[ASN][1000 genomes]
rs11182955	0.92[ASN][1000 genomes]
rs11182957	0.85[ASN][1000 genomes]
rs11182961	0.80[ASN][1000 genomes]
rs11182965	0.80[ASN][1000 genomes]
rs11182966	0.80[ASN][1000 genomes]
rs11561532	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610233	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11611509	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11612203	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11612233	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11614082	0.80[ASN][1000 genomes]
rs11614089	0.85[ASN][1000 genomes]
rs11615850	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12226944	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12227678	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12228399	0.85[ASN][1000 genomes]
rs12228733	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12230322	0.89[EUR][1000 genomes]
rs12299174	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12320168	0.89[EUR][1000 genomes]
rs12320437	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12322087	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12814332	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12815115	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12815334	0.92[ASN][1000 genomes]
rs12815577	0.95[AFR][1000 genomes]
rs12815723	0.92[ASN][1000 genomes]
rs12818421	0.89[ASN][1000 genomes]
rs12822746	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828052	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17095551	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095557	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095584	0.95[AFR][1000 genomes]
rs2052602	0.89[EUR][1000 genomes]
rs2052603	0.87[EUR][1000 genomes]
rs2408184	0.89[EUR][1000 genomes]
rs2408185	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34024171	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34759896	0.80[ASN][1000 genomes]
rs35032811	0.85[ASN][1000 genomes]
rs35054776	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35588430	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35660715	0.89[EUR][1000 genomes]
rs3759077	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759080	0.89[EUR][1000 genomes]
rs3759081	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759082	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3782131	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57560057	0.92[ASN][1000 genomes]
rs57797434	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59569841	0.89[AFR][1000 genomes]
rs60840825	0.89[AFR][1000 genomes]
rs61923810	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61923825	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61923830	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7138983	0.85[EUR][1000 genomes]
rs73275009	0.97[AFR][1000 genomes]
rs73275012	0.97[AFR][1000 genomes]
rs73279680	0.85[AFR][1000 genomes]
rs73279683	0.89[AFR][1000 genomes]
rs73281425	0.89[AFR][1000 genomes]
rs73281431	0.84[AFR][1000 genomes]
rs73281433	0.83[AFR][1000 genomes]
rs73281436	0.87[AFR][1000 genomes]
rs73281453	0.89[AFR][1000 genomes]
rs73281454	0.89[AFR][1000 genomes]
rs73293382	0.95[AFR][1000 genomes]
rs7954282	0.87[ASN][1000 genomes]
rs7963038	0.89[EUR][1000 genomes]
rs7963057	0.89[EUR][1000 genomes]
rs9739519	0.89[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	chr12:45614400-45650200	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	chr12:45630000-45651000	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:45630000-45651000	Weak transcription	HepG2	liver
8	chr12:45630000-45653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:45636000-45651000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:45636200-45651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:45636200-45652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:45636200-45653400	Weak transcription	Thymus	Thymus
13	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:45636400-45650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:45636400-45650400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:45636400-45651000	Weak transcription	Pancreas	Pancrea
17	chr12:45636400-45652200	Weak transcription	Fetal Intestine Small	intestine
18	chr12:45636400-45653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:45638800-45650200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:45638800-45650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:45638800-45650800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:45638800-45650800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:45638800-45651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:45638800-45652200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:45638800-45652200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:45639000-45650800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:45639000-45651000	Weak transcription	Spleen	Spleen
28	chr12:45639000-45653200	Weak transcription	Placenta	Placenta
29	chr12:45639000-45653600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:45639400-45650200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:45639400-45650600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:45640600-45650800	Weak transcription	Adipose Nuclei	Adipose
33	chr12:45641600-45651000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:45641600-45651000	Weak transcription	Lung	lung
35	chr12:45641600-45652800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:45641800-45650000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:45643000-45651000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:45643000-45652400	Weak transcription	HUVEC	blood vessel
39	chr12:45644000-45650600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:45644000-45653200	Weak transcription	Fetal Kidney	kidney
41	chr12:45644600-45651000	Weak transcription	HMEC	breast
42	chr12:45645600-45650600	Weak transcription	Fetal Thymus	thymus
43	chr12:45645600-45650800	Weak transcription	Psoas Muscle	Psoas
44	chr12:45645600-45651000	Weak transcription	Right Atrium	heart
45	chr12:45645800-45650800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:45646600-45650000	Enhancers	Colon Smooth Muscle	Colon
47	chr12:45646600-45653800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:45647200-45650800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:45647400-45652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:45648000-45657400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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