Variant report

Variant	rs57357866
Chromosome Location	chr4:78700128-78700129
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	chr4:78698610..78700258-chr4:78704577..78706210,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10005741	0.82[ASN][1000 genomes]
rs10007837	0.82[ASN][1000 genomes]
rs10222901	0.82[ASN][1000 genomes]
rs10856982	0.82[ASN][1000 genomes]
rs11097935	0.82[ASN][1000 genomes]
rs11727993	0.82[ASN][1000 genomes]
rs13111592	0.82[ASN][1000 genomes]
rs13118459	0.82[ASN][1000 genomes]
rs13137909	0.82[ASN][1000 genomes]
rs13144225	0.82[ASN][1000 genomes]
rs13144226	0.82[ASN][1000 genomes]
rs1501373	0.84[ASN][1000 genomes]
rs2030463	0.84[ASN][1000 genomes]
rs2102116	0.82[ASN][1000 genomes]
rs2173869	0.82[ASN][1000 genomes]
rs2903291	0.82[ASN][1000 genomes]
rs4541532	0.82[ASN][1000 genomes]
rs4859876	0.82[ASN][1000 genomes]
rs4859878	0.82[ASN][1000 genomes]
rs6533269	0.82[ASN][1000 genomes]
rs6533270	0.82[ASN][1000 genomes]
rs6533271	0.82[ASN][1000 genomes]
rs6533272	0.82[ASN][1000 genomes]
rs6817823	0.82[ASN][1000 genomes]
rs6823465	0.82[ASN][1000 genomes]
rs6839504	0.81[ASN][1000 genomes]
rs6850049	0.82[ASN][1000 genomes]
rs6850111	0.82[ASN][1000 genomes]
rs6857067	0.82[ASN][1000 genomes]
rs7655949	0.82[ASN][1000 genomes]
rs7669988	0.82[ASN][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
rs57357866	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78643800-78714000	Weak transcription	Lung	lung
2	chr4:78650200-78702800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:78650200-78720000	Weak transcription	Spleen	Spleen
4	chr4:78691800-78703000	Weak transcription	A549	lung
5	chr4:78693400-78704400	Weak transcription	HUVEC	blood vessel
6	chr4:78694200-78722000	Weak transcription	Fetal Stomach	stomach
7	chr4:78696400-78717600	Weak transcription	Thymus	Thymus
8	chr4:78697200-78716400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:78697400-78721400	Weak transcription	Placenta	Placenta
10	chr4:78697600-78709200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr4:78697800-78700200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:78698000-78714000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:78698000-78714600	Weak transcription	Fetal Thymus	thymus
14	chr4:78698000-78716400	Weak transcription	Primary B cells from cord blood	blood
15	chr4:78698200-78702200	Weak transcription	Pancreas	Pancrea
16	chr4:78698200-78703400	Weak transcription	Psoas Muscle	Psoas
17	chr4:78698200-78706000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:78698400-78704600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr4:78698600-78702000	Weak transcription	HepG2	liver
20	chr4:78698600-78703000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:78698600-78703400	Weak transcription	Small Intestine	intestine
22	chr4:78698600-78704400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:78698600-78704600	Weak transcription	Fetal Lung	lung
24	chr4:78698600-78707000	Weak transcription	Gastric	stomach
25	chr4:78698600-78710600	Weak transcription	Left Ventricle	heart
26	chr4:78698600-78710600	Weak transcription	Ovary	ovary
27	chr4:78698600-78710800	Weak transcription	Adipose Nuclei	Adipose
28	chr4:78698600-78714000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:78698600-78717400	Weak transcription	Right Ventricle	heart
30	chr4:78698600-78720200	Weak transcription	Dnd41	blood
31	chr4:78698800-78701600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:78698800-78701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:78698800-78702800	Weak transcription	Brain Germinal Matrix	brain
34	chr4:78698800-78702800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:78698800-78702800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:78698800-78703000	Weak transcription	Brain Angular Gyrus	brain
37	chr4:78698800-78703000	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:78698800-78703000	Weak transcription	Fetal Intestine Small	intestine
39	chr4:78698800-78703000	Weak transcription	NHDF-Ad	bronchial
40	chr4:78698800-78703200	Weak transcription	Stomach Mucosa	stomach
41	chr4:78698800-78703400	Weak transcription	Fetal Intestine Large	intestine
42	chr4:78698800-78704400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:78698800-78704800	Weak transcription	Brain Anterior Caudate	brain
44	chr4:78698800-78707600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:78698800-78708600	Weak transcription	Brain Substantia Nigra	brain
46	chr4:78698800-78710000	Weak transcription	Liver	Liver
47	chr4:78698800-78717400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:78699000-78703000	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:78699000-78703600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:78699200-78700200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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