Variant report

Variant	rs11038443
Chromosome Location	chr11:45422720-45422721
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45418856..45421391-chr11:45421484..45423655,2	K562	blood:

Variant related genes	Relation type
ENSG00000254651	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10160472	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10160502	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10160694	0.91[EUR][1000 genomes]
rs10160834	0.91[EUR][1000 genomes]
rs10501315	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10838454	0.91[EUR][1000 genomes]
rs10838455	0.91[EUR][1000 genomes]
rs10838479	0.96[EUR][1000 genomes]
rs11038403	0.85[EUR][1000 genomes]
rs11038404	0.90[EUR][1000 genomes]
rs11038405	0.90[EUR][1000 genomes]
rs11038406	0.91[EUR][1000 genomes]
rs11038409	0.90[EUR][1000 genomes]
rs11038411	0.91[EUR][1000 genomes]
rs11038417	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11038420	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11038423	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038424	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038426	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038427	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038429	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11038430	0.85[AMR][1000 genomes]
rs11038431	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038432	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038433	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038436	1.00[AMR][1000 genomes]
rs11038437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038450	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038451	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038455	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038456	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038457	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038458	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038459	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038461	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11038462	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038465	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038466	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038467	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038469	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038471	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038472	0.95[EUR][1000 genomes]
rs11038473	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038474	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038475	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038477	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038479	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038481	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038482	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038483	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038485	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11038486	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038487	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038491	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038492	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038493	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038494	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038495	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038496	0.96[EUR][1000 genomes]
rs11038497	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038498	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038510	0.84[EUR][1000 genomes]
rs11038515	0.87[EUR][1000 genomes]
rs11038516	0.87[EUR][1000 genomes]
rs11038518	0.87[EUR][1000 genomes]
rs11038520	0.87[EUR][1000 genomes]
rs11038522	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11038525	0.82[CEU][hapmap]
rs11038528	0.82[CEU][hapmap]
rs11038549	0.82[CEU][hapmap]
rs11038550	0.82[CEU][hapmap]
rs11038551	0.82[CEU][hapmap]
rs11038552	1.00[CEU][hapmap]
rs1107209	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11599949	0.90[EUR][1000 genomes]
rs11599993	0.90[EUR][1000 genomes]
rs11601006	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11601410	0.91[EUR][1000 genomes]
rs11604510	0.91[EUR][1000 genomes]
rs12278000	0.91[EUR][1000 genomes]
rs12360696	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12361372	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12363740	0.94[EUR][1000 genomes]
rs12364278	0.98[EUR][1000 genomes]
rs12364661	0.98[EUR][1000 genomes]
rs12365374	0.91[EUR][1000 genomes]
rs12365430	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12365455	0.91[EUR][1000 genomes]
rs12365467	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12365982	0.96[EUR][1000 genomes]
rs12366014	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1488668	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1488669	0.96[EUR][1000 genomes]
rs1488670	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17723819	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17724032	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17724086	0.96[EUR][1000 genomes]
rs17724240	0.82[CEU][hapmap]
rs17785901	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17786039	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17786178	0.82[CEU][hapmap]
rs1844150	0.98[EUR][1000 genomes]
rs2044877	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72893316	0.89[EUR][1000 genomes]
rs72893332	0.85[EUR][1000 genomes]
rs72893337	0.85[EUR][1000 genomes]
rs72893356	0.87[EUR][1000 genomes]
rs72897413	0.91[EUR][1000 genomes]
rs72897414	0.91[EUR][1000 genomes]
rs72897422	0.91[EUR][1000 genomes]
rs72897428	0.91[EUR][1000 genomes]
rs72897458	0.91[EUR][1000 genomes]
rs72897475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72899452	0.88[EUR][1000 genomes]
rs72899480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72899488	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901403	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901422	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901426	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901447	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901450	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901459	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901500	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72903035	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72903086	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72903094	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72905021	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72905025	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72905092	0.96[EUR][1000 genomes]
rs72905093	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72906922	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72906947	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs971897	1.00[AMR][1000 genomes];0.98[EUR][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	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv306	chr11:45414044-45444431	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv1812422	chr11:45419113-45431510	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45405400-45434800	Weak transcription	Right Atrium	heart
2	chr11:45416000-45423400	Weak transcription	Spleen	Spleen
3	chr11:45420200-45423800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:45420600-45423000	Weak transcription	Lung	lung
5	chr11:45421000-45423200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:45421000-45423200	Enhancers	Osteobl	bone
7	chr11:45421000-45423400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:45421200-45423200	Enhancers	HUVEC	blood vessel
9	chr11:45421400-45423000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:45421400-45423200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:45421400-45423200	Enhancers	NHDF-Ad	bronchial
12	chr11:45421600-45423200	Bivalent Enhancer	HepG2	liver
13	chr11:45421600-45423200	Enhancers	NHLF	lung
14	chr11:45421800-45422800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr11:45421800-45431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:45422000-45422800	Enhancers	HSMMtube	muscle
17	chr11:45422000-45428200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:45422000-45428800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:45422000-45431600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:45422200-45423000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:45422400-45423000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:45422600-45422800	Enhancers	HSMM	muscle
23	chr11:45422600-45423200	Enhancers	NH-A	brain
24	chr11:45422600-45423800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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