Variant report

Variant	rs59912809
Chromosome Location	chr11:73248642-73248643
allele	C/T
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]
rs56260110	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]
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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73232600-73249400	Weak transcription	Brain Germinal Matrix	brain
2	chr11:73240200-73249600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:73240200-73252600	Weak transcription	Placenta	Placenta
4	chr11:73240400-73249200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:73240400-73249400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:73240400-73249400	Weak transcription	HMEC	breast
7	chr11:73240400-73249600	Weak transcription	Adipose Nuclei	Adipose
8	chr11:73240400-73251600	Weak transcription	Fetal Intestine Large	intestine
9	chr11:73240400-73253800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:73240400-73254400	Weak transcription	Stomach Mucosa	stomach
11	chr11:73240600-73249400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:73240600-73255400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:73241400-73251400	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:73241600-73248800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:73241600-73249400	Weak transcription	Thymus	Thymus
16	chr11:73241600-73250600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:73242200-73250600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:73242600-73249400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:73242800-73248800	Weak transcription	GM12878-XiMat	blood
20	chr11:73242800-73249200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:73242800-73249400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:73243000-73249400	Weak transcription	Brain Anterior Caudate	brain
23	chr11:73243200-73249400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:73243200-73249400	Weak transcription	Right Atrium	heart
25	chr11:73243400-73249400	Weak transcription	Primary T cells from cord blood	blood
26	chr11:73243400-73279600	Weak transcription	Fetal Stomach	stomach
27	chr11:73243800-73249200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:73243800-73263000	Weak transcription	Fetal Intestine Small	intestine
29	chr11:73244000-73249000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:73244000-73249400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:73244000-73249600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:73244000-73253000	Weak transcription	Psoas Muscle	Psoas
33	chr11:73244200-73248800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:73244200-73248800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:73244200-73249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:73244200-73249200	Weak transcription	HepG2	liver
37	chr11:73244200-73249400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:73244200-73249400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:73244200-73249400	Weak transcription	Small Intestine	intestine
40	chr11:73244400-73249200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:73244400-73249400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:73245000-73248800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:73245000-73249400	Weak transcription	Brain Substantia Nigra	brain
44	chr11:73245400-73249800	Weak transcription	Fetal Kidney	kidney
45	chr11:73245600-73249600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:73246200-73256400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:73246400-73249000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr11:73247400-73251000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr11:73247600-73249400	Weak transcription	Left Ventricle	heart
50	chr11:73247800-73249200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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