Variant report

Variant	rs11723029
Chromosome Location	chr4:78711706-78711707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78710108..78712213-chr4:78713271..78715270,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10005741	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11097935	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11727993	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11730329	0.83[AMR][1000 genomes]
rs11730403	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11733759	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13111592	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13131896	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13138341	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13144225	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1402626	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1501373	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1521419	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1554457	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17002823	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17002825	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17002829	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17002831	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1813725	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1814033	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1980266	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2866444	0.83[AFR][1000 genomes]
rs2866689	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2903291	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4078523	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4365752	0.88[AMR][1000 genomes]
rs4859506	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4859871	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4859876	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4859878	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55694923	0.83[AMR][1000 genomes]
rs55886549	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs57246363	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6533239	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6533270	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6533272	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6533290	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6822317	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6850049	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6855336	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6857067	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7655949	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7657658	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7669988	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7693256	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs885376	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9993942	0.90[AFR][1000 genomes];0.88[AMR][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	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11723029	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78643800-78714000	Weak transcription	Lung	lung
2	chr4:78650200-78720000	Weak transcription	Spleen	Spleen
3	chr4:78694200-78722000	Weak transcription	Fetal Stomach	stomach
4	chr4:78696400-78717600	Weak transcription	Thymus	Thymus
5	chr4:78697200-78716400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:78697400-78721400	Weak transcription	Placenta	Placenta
7	chr4:78698000-78714000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:78698000-78714600	Weak transcription	Fetal Thymus	thymus
9	chr4:78698000-78716400	Weak transcription	Primary B cells from cord blood	blood
10	chr4:78698600-78714000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:78698600-78717400	Weak transcription	Right Ventricle	heart
12	chr4:78698600-78720200	Weak transcription	Dnd41	blood
13	chr4:78698800-78717400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:78699200-78716400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:78699400-78714000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:78701600-78716600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:78701600-78721400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:78701800-78712400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:78703600-78718000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:78704800-78716600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:78704800-78716600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:78704800-78722200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:78705800-78720000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:78706000-78717600	Weak transcription	Right Atrium	heart
25	chr4:78706200-78719800	Weak transcription	Fetal Intestine Small	intestine
26	chr4:78707000-78716600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr4:78707400-78720200	Weak transcription	Gastric	stomach
28	chr4:78707600-78717800	Weak transcription	Esophagus	oesophagus
29	chr4:78707800-78712000	Weak transcription	Psoas Muscle	Psoas
30	chr4:78708000-78716400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:78709000-78713200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:78709200-78721400	Weak transcription	Brain Substantia Nigra	brain
33	chr4:78710000-78715600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr4:78710200-78712800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr4:78710200-78722000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr4:78710400-78716000	Enhancers	Primary T cells from cord blood	blood
37	chr4:78710600-78711800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr4:78710600-78716600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr4:78711000-78713600	Weak transcription	Left Ventricle	heart
40	chr4:78711000-78714000	Weak transcription	Pancreas	Pancrea
41	chr4:78711000-78714000	Weak transcription	Small Intestine	intestine
42	chr4:78711000-78717600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:78711000-78718000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:78711000-78722200	Weak transcription	Ovary	ovary
45	chr4:78711200-78711800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:78711400-78712400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr4:78711400-78712800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:78711400-78716400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:78711400-78722000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:78711600-78711800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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