Variant report

Variant	rs56260110
Chromosome Location	chr11:73249910-73249911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11823008	1.00[EUR][1000 genomes]
rs11823289	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11825028	0.84[EUR][1000 genomes]
rs12290367	0.84[EUR][1000 genomes]
rs34304845	0.81[AMR][1000 genomes]
rs55727935	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55940558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56045329	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56057109	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56135026	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56187614	0.81[AMR][1000 genomes]
rs56193465	0.91[EUR][1000 genomes]
rs56205113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56262837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56332879	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56407713	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56701090	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57288336	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58619954	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58850636	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59199852	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59212255	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59250186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59912809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60578483	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61236919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61361454	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61527032	0.91[EUR][1000 genomes]
rs6592525	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7105000	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7105567	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105802	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105824	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119049	0.91[EUR][1000 genomes]
rs7120131	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7128786	0.91[EUR][1000 genomes]
rs7128980	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7131044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7131397	0.84[EUR][1000 genomes]
rs7931840	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7932197	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7933274	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7936584	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7945735	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7945984	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7949882	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73240200-73252600	Weak transcription	Placenta	Placenta
2	chr11:73240400-73251600	Weak transcription	Fetal Intestine Large	intestine
3	chr11:73240400-73253800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73240400-73254400	Weak transcription	Stomach Mucosa	stomach
5	chr11:73240600-73255400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:73241400-73251400	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:73241600-73250600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:73242200-73250600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:73243400-73279600	Weak transcription	Fetal Stomach	stomach
10	chr11:73243800-73263000	Weak transcription	Fetal Intestine Small	intestine
11	chr11:73244000-73253000	Weak transcription	Psoas Muscle	Psoas
12	chr11:73246200-73256400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:73247400-73251000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:73247800-73250200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr11:73248400-73250200	Enhancers	Primary B cells from cord blood	blood
16	chr11:73248600-73250200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:73248600-73250200	Enhancers	Brain Angular Gyrus	brain
18	chr11:73248600-73250200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr11:73248600-73251000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:73248600-73251000	Enhancers	Brain Hippocampus Middle	brain
21	chr11:73248600-73251400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:73248600-73251800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:73248800-73250400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:73248800-73251200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:73248800-73251600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:73248800-73251800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr11:73249000-73250000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:73249000-73251000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr11:73249200-73250000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr11:73249200-73250000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:73249200-73250000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:73249200-73250000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:73249200-73250000	Enhancers	Fetal Heart	heart
34	chr11:73249200-73250200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:73249200-73250200	Enhancers	HepG2	liver
36	chr11:73249200-73251000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr11:73249200-73251000	Enhancers	Fetal Thymus	thymus
38	chr11:73249200-73251200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:73249200-73251200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr11:73249400-73250000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:73249400-73250000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:73249400-73250000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr11:73249400-73250000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr11:73249400-73250000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:73249400-73250000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr11:73249400-73250000	Enhancers	Left Ventricle	heart
47	chr11:73249400-73250000	Enhancers	HMEC	breast
48	chr11:73249400-73250000	Enhancers	HSMM	muscle
49	chr11:73249400-73250000	Enhancers	Osteobl	bone
50	chr11:73249400-73250200	Flanking Active TSS	Primary T cells from cord blood	blood

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