Variant report

Variant	rs6814830
Chromosome Location	chr4:78701012-78701013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10005741	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10007837	0.86[ASN][1000 genomes]
rs10222901	0.91[ASN][1000 genomes]
rs10856982	0.91[ASN][1000 genomes]
rs11097935	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1156059	0.91[ASN][1000 genomes]
rs11727993	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12643960	0.80[ASN][1000 genomes]
rs13111592	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13118459	0.86[ASN][1000 genomes]
rs13131896	0.80[AMR][1000 genomes]
rs13137909	0.91[ASN][1000 genomes]
rs13144225	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13144226	0.91[ASN][1000 genomes]
rs1501373	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1521419	0.80[AMR][1000 genomes]
rs1554457	0.80[AMR][1000 genomes]
rs17002823	0.80[AMR][1000 genomes]
rs17002825	0.80[AMR][1000 genomes]
rs1813725	0.89[ASN][1000 genomes]
rs1814033	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1980266	0.80[AMR][1000 genomes]
rs2030463	0.89[ASN][1000 genomes]
rs2102116	0.86[ASN][1000 genomes]
rs2173869	0.91[ASN][1000 genomes]
rs2866444	0.80[ASN][1000 genomes]
rs2903291	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4365752	0.80[AMR][1000 genomes]
rs4541532	0.91[ASN][1000 genomes]
rs4859506	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4859871	0.81[AFR][1000 genomes]
rs4859872	0.84[ASN][1000 genomes]
rs4859876	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4859878	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55886549	0.80[AMR][1000 genomes]
rs57246363	0.80[AMR][1000 genomes]
rs6533226	0.80[ASN][1000 genomes]
rs6533239	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6533269	0.91[ASN][1000 genomes]
rs6533270	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6533271	0.91[ASN][1000 genomes]
rs6533272	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6533274	0.88[ASN][1000 genomes]
rs6817823	0.91[ASN][1000 genomes]
rs6822317	0.80[AMR][1000 genomes]
rs6823465	0.86[ASN][1000 genomes]
rs6828302	0.86[ASN][1000 genomes]
rs6833179	0.84[ASN][1000 genomes]
rs6839504	0.83[ASN][1000 genomes]
rs6849922	0.88[ASN][1000 genomes]
rs6850049	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6850111	0.86[ASN][1000 genomes]
rs6855336	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6857067	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7655949	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7669988	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7674744	0.80[ASN][1000 genomes]
rs7693256	0.81[AFR][1000 genomes]
rs9993942	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[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
rs6814830	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	chr4:78698000-78714000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:78698000-78714600	Weak transcription	Fetal Thymus	thymus
13	chr4:78698000-78716400	Weak transcription	Primary B cells from cord blood	blood
14	chr4:78698200-78702200	Weak transcription	Pancreas	Pancrea
15	chr4:78698200-78703400	Weak transcription	Psoas Muscle	Psoas
16	chr4:78698200-78706000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr4:78698400-78704600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:78698600-78702000	Weak transcription	HepG2	liver
19	chr4:78698600-78703000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:78698600-78703400	Weak transcription	Small Intestine	intestine
21	chr4:78698600-78704400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:78698600-78704600	Weak transcription	Fetal Lung	lung
23	chr4:78698600-78707000	Weak transcription	Gastric	stomach
24	chr4:78698600-78710600	Weak transcription	Left Ventricle	heart
25	chr4:78698600-78710600	Weak transcription	Ovary	ovary
26	chr4:78698600-78710800	Weak transcription	Adipose Nuclei	Adipose
27	chr4:78698600-78714000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:78698600-78717400	Weak transcription	Right Ventricle	heart
29	chr4:78698600-78720200	Weak transcription	Dnd41	blood
30	chr4:78698800-78701600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:78698800-78701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:78698800-78702800	Weak transcription	Brain Germinal Matrix	brain
33	chr4:78698800-78702800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:78698800-78702800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:78698800-78703000	Weak transcription	Brain Angular Gyrus	brain
36	chr4:78698800-78703000	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:78698800-78703000	Weak transcription	Fetal Intestine Small	intestine
38	chr4:78698800-78703000	Weak transcription	NHDF-Ad	bronchial
39	chr4:78698800-78703200	Weak transcription	Stomach Mucosa	stomach
40	chr4:78698800-78703400	Weak transcription	Fetal Intestine Large	intestine
41	chr4:78698800-78704400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:78698800-78704800	Weak transcription	Brain Anterior Caudate	brain
43	chr4:78698800-78707600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:78698800-78708600	Weak transcription	Brain Substantia Nigra	brain
45	chr4:78698800-78710000	Weak transcription	Liver	Liver
46	chr4:78698800-78717400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:78699000-78703000	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:78699000-78703600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:78699200-78702800	Weak transcription	Fetal Heart	heart
50	chr4:78699200-78704400	Weak transcription	Duodenum Mucosa	Duodenum

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