Variant report

Variant	rs1156059
Chromosome Location	chr4:78737971-78737972
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78734703..78743448-chr4:78779372..78785561,20	K562	blood:
2	chr4:78731203..78732890-chr4:78737622..78739382,2	K562	blood:

Variant related genes	Relation type
ENSG00000169288	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10005741	0.91[ASN][1000 genomes]
rs10007837	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1010728	0.88[AMR][1000 genomes]
rs10222901	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1039403	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10428319	0.84[AMR][1000 genomes]
rs10856982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10856991	0.84[AMR][1000 genomes]
rs11097900	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11097935	0.95[ASN][1000 genomes]
rs11097965	0.91[AMR][1000 genomes]
rs11727993	0.95[ASN][1000 genomes]
rs11730329	0.86[ASN][1000 genomes]
rs11730403	0.86[ASN][1000 genomes]
rs11731374	0.93[AMR][1000 genomes]
rs11733759	0.85[ASN][1000 genomes]
rs11737353	0.93[AMR][1000 genomes]
rs11939576	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12108312	0.88[AMR][1000 genomes]
rs12510593	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12643960	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13105201	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13111592	0.91[ASN][1000 genomes]
rs13118459	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13128914	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13131896	0.86[ASN][1000 genomes]
rs13137909	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13144225	0.95[ASN][1000 genomes]
rs13144226	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1402626	0.86[ASN][1000 genomes]
rs1501373	0.93[ASN][1000 genomes]
rs1502879	0.81[AMR][1000 genomes]
rs1521419	0.86[ASN][1000 genomes]
rs1554457	0.86[ASN][1000 genomes]
rs17002823	0.86[ASN][1000 genomes]
rs17002824	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17002825	0.86[ASN][1000 genomes]
rs17002828	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17002829	0.86[ASN][1000 genomes]
rs17002831	0.86[ASN][1000 genomes]
rs1813725	0.98[ASN][1000 genomes]
rs1814033	0.89[ASN][1000 genomes]
rs1980266	0.86[ASN][1000 genomes]
rs2008222	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2030463	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2102116	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2134048	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2173869	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2174078	0.88[AMR][1000 genomes]
rs2174080	0.88[AMR][1000 genomes]
rs2866444	0.84[ASN][1000 genomes]
rs2866688	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2866689	0.81[ASN][1000 genomes]
rs2866690	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2903291	0.95[ASN][1000 genomes]
rs3205281	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4078523	0.84[ASN][1000 genomes]
rs4304001	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4365752	0.86[ASN][1000 genomes]
rs4388114	0.93[AMR][1000 genomes]
rs4410552	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4472161	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4541532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4546268	0.84[AMR][1000 genomes]
rs4561950	0.84[AMR][1000 genomes]
rs4607246	0.93[AMR][1000 genomes]
rs4859506	0.84[ASN][1000 genomes]
rs4859872	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4859876	0.91[ASN][1000 genomes]
rs4859878	0.95[ASN][1000 genomes]
rs55673370	0.93[AMR][1000 genomes]
rs55694923	0.86[ASN][1000 genomes]
rs55886549	0.86[ASN][1000 genomes]
rs56138517	0.84[AMR][1000 genomes]
rs57246363	0.86[ASN][1000 genomes]
rs57501818	0.93[AMR][1000 genomes]
rs57896992	0.88[AMR][1000 genomes]
rs58218398	0.81[ASN][1000 genomes]
rs58358199	0.93[AMR][1000 genomes]
rs60135456	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6533217	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6533226	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6533239	0.88[ASN][1000 genomes]
rs6533269	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6533270	0.95[ASN][1000 genomes]
rs6533271	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6533272	0.95[ASN][1000 genomes]
rs6533274	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6533290	0.86[ASN][1000 genomes]
rs6814830	0.91[ASN][1000 genomes]
rs6817305	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6817823	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6821826	0.88[AMR][1000 genomes]
rs6822317	0.86[ASN][1000 genomes]
rs6823465	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6827822	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6828302	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6829203	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6832015	0.84[AMR][1000 genomes]
rs6833179	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6836627	0.93[AMR][1000 genomes]
rs6838630	0.93[AMR][1000 genomes]
rs6839504	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6849922	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6850049	0.95[ASN][1000 genomes]
rs6850111	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6854989	0.84[AMR][1000 genomes]
rs6855336	0.88[ASN][1000 genomes]
rs6857067	0.95[ASN][1000 genomes]
rs72868269	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72869573	0.86[AMR][1000 genomes]
rs73827437	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73827443	0.86[ASN][1000 genomes]
rs73827451	0.93[AMR][1000 genomes]
rs7439347	0.84[AMR][1000 genomes]
rs7655949	0.91[ASN][1000 genomes]
rs7656319	0.88[AMR][1000 genomes]
rs7657658	0.86[ASN][1000 genomes]
rs7659122	0.84[AMR][1000 genomes]
rs7661064	0.93[AMR][1000 genomes]
rs7663359	0.84[AMR][1000 genomes]
rs7669988	0.91[ASN][1000 genomes]
rs7671941	0.84[AMR][1000 genomes]
rs7673642	0.88[AMR][1000 genomes]
rs7674744	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7675586	0.91[AMR][1000 genomes]
rs7686883	0.82[ASN][1000 genomes]
rs7687170	0.84[AMR][1000 genomes]
rs7687812	0.93[AMR][1000 genomes]
rs7689226	0.93[AMR][1000 genomes]
rs7692075	0.93[AMR][1000 genomes]
rs7693256	0.82[ASN][1000 genomes]
rs9993942	0.84[ASN][1000 genomes]
rs9996218	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1156059	CNOT6L	cis	Esophagus Muscularis	GTEx
rs1156059	CNOT6L	cis	Artery Tibial	GTEx
rs1156059	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78718800-78738600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:78722200-78738600	Weak transcription	HSMM	muscle
3	chr4:78722600-78738600	Weak transcription	NHEK	skin
4	chr4:78722600-78739000	Weak transcription	Ovary	ovary
5	chr4:78722600-78739200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:78722800-78738600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:78723000-78738600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:78723200-78738600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:78724400-78738600	Weak transcription	Colonic Mucosa	Colon
10	chr4:78724800-78738600	Weak transcription	Brain Substantia Nigra	brain
11	chr4:78725800-78738600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr4:78728600-78738600	Weak transcription	Psoas Muscle	Psoas
13	chr4:78728800-78738600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:78730400-78738600	Weak transcription	K562	blood
15	chr4:78732200-78738600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:78732400-78738600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:78732800-78738800	Weak transcription	Lung	lung
18	chr4:78733200-78738600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:78733400-78738000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr4:78733600-78738600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr4:78734800-78738600	Enhancers	Duodenum Mucosa	Duodenum
22	chr4:78735000-78738000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:78735600-78738400	Enhancers	HepG2	liver
24	chr4:78735600-78738600	Enhancers	Liver	Liver
25	chr4:78735800-78738600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:78735800-78738600	Weak transcription	Fetal Kidney	kidney
27	chr4:78735800-78738800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:78736400-78738600	Enhancers	Primary hematopoietic stem cells	blood
29	chr4:78736400-78738600	Weak transcription	A549	lung
30	chr4:78736600-78738000	Enhancers	Primary B cells from peripheral blood	blood
31	chr4:78736600-78738600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:78736600-78738800	Enhancers	Primary B cells from cord blood	blood
33	chr4:78736600-78739200	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr4:78736800-78738000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:78736800-78738600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:78736800-78738800	Weak transcription	Brain Germinal Matrix	brain
37	chr4:78737000-78738000	Weak transcription	Fetal Intestine Large	intestine
38	chr4:78737000-78738200	Weak transcription	HUVEC	blood vessel
39	chr4:78737000-78738400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr4:78737000-78738600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr4:78737000-78738600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:78737000-78738600	Weak transcription	Right Ventricle	heart
43	chr4:78737000-78738600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:78737000-78738800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:78737000-78738800	Weak transcription	Aorta	Aorta
46	chr4:78737000-78738800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr4:78737000-78738800	Weak transcription	Esophagus	oesophagus
48	chr4:78737000-78738800	Weak transcription	Fetal Brain Male	brain
49	chr4:78737000-78738800	Weak transcription	Fetal Brain Female	brain
50	chr4:78737000-78738800	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links