Variant report

Variant	rs59199852
Chromosome Location	chr11:73230999-73231000
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
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	0.86[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	0.84[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56260110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56262837	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56332879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56407713	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56701090	0.95[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	0.84[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59912809	0.96[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	0.99[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105824	1.00[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	0.93[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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	nsv508641	chr11:73149281-73235528	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73141800-73231600	Weak transcription	Thymus	Thymus
2	chr11:73202400-73240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:73205000-73239600	Weak transcription	Primary B cells from cord blood	blood
4	chr11:73205600-73236400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:73205800-73241400	Weak transcription	Pancreas	Pancrea
6	chr11:73206200-73232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:73210200-73231400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:73215600-73232200	Weak transcription	A549	lung
9	chr11:73217400-73231400	Weak transcription	Primary T cells from cord blood	blood
10	chr11:73218600-73232600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:73219000-73231400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:73219000-73232200	Weak transcription	Osteobl	bone
13	chr11:73219200-73241400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:73219600-73232200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:73220000-73232200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:73220400-73231800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:73220400-73231800	Weak transcription	Brain Germinal Matrix	brain
18	chr11:73221200-73238000	Weak transcription	Psoas Muscle	Psoas
19	chr11:73221400-73232400	Weak transcription	Hela-S3	cervix
20	chr11:73221400-73238200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:73221600-73231800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:73221800-73239600	Weak transcription	Liver	Liver
23	chr11:73222200-73232400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:73222400-73231600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:73223000-73232600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:73224200-73231400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:73226200-73232400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr11:73226400-73231600	Weak transcription	Fetal Thymus	thymus
29	chr11:73226400-73239600	Weak transcription	Fetal Stomach	stomach
30	chr11:73229200-73231800	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:73229400-73232800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:73230000-73231600	Enhancers	GM12878-XiMat	blood
33	chr11:73230000-73233800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr11:73230000-73234600	Enhancers	Dnd41	blood
35	chr11:73230200-73233400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:73230400-73231000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:73230400-73233400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:73230400-73233600	Enhancers	Brain Substantia Nigra	brain
39	chr11:73230600-73231600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:73230600-73232000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:73230800-73231400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:73230800-73232600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:73230800-73232600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:73230800-73239600	Weak transcription	NHDF-Ad	bronchial

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