Variant report

Variant	rs13164115
Chromosome Location	chr5:154324331-154324332
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:154324007..154326938-chr5:154348762..154350753,2	K562	blood:
2	chr5:154323657..154326218-chr5:154328903..154330855,4	K562	blood:
3	chr5:154319047..154322495-chr5:154322836..154326020,5	K562	blood:
4	chr5:154322602..154324866-chr5:154325761..154328339,2	K562	blood:

Variant related genes	Relation type
ENSG00000082515	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13156153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13156669	0.90[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13177143	1.00[AFR][1000 genomes]
rs13178728	1.00[AFR][1000 genomes]
rs13182236	1.00[AFR][1000 genomes]
rs1403559	0.91[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2103073	1.00[AFR][1000 genomes]
rs2434217	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2434218	0.81[CEU][hapmap];1.00[AFR][1000 genomes]
rs2544891	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35838764	1.00[AFR][1000 genomes]
rs6882998	0.90[CEU][hapmap]
rs816735	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs13164115	CNOT8	cis	Thyroid	GTEx
rs13164115	CNOT8	cis	Adipose Subcutaneous	GTEx
rs13164115	CNOT8	cis	Nerve Tibial	GTEx
rs13164115	CNOT8	cis	Artery Tibial	GTEx
rs13164115	CNOT8	cis	lung	GTEx
rs13164115	CNOT8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154321200-154337400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:154321200-154338000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:154321400-154329600	Weak transcription	Small Intestine	intestine
4	chr5:154321400-154336400	Weak transcription	Placenta	Placenta
5	chr5:154321400-154338000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:154321400-154338200	Weak transcription	Lung	lung
7	chr5:154321400-154338600	Weak transcription	Gastric	stomach
8	chr5:154321400-154338800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:154321400-154339000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:154321400-154346000	Weak transcription	Colonic Mucosa	Colon
11	chr5:154321600-154325800	Enhancers	Liver	Liver
12	chr5:154321600-154326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:154321600-154326600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:154321600-154336000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:154321600-154336600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:154321600-154337400	Weak transcription	Fetal Intestine Small	intestine
17	chr5:154321600-154337400	Weak transcription	Ovary	ovary
18	chr5:154321600-154338000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:154321600-154338200	Weak transcription	Aorta	Aorta
20	chr5:154321600-154338800	Weak transcription	Fetal Kidney	kidney
21	chr5:154321600-154340000	Weak transcription	HSMMtube	muscle
22	chr5:154321600-154343400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:154321600-154345600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:154321800-154336200	Weak transcription	NH-A	brain
25	chr5:154321800-154336400	Weak transcription	Fetal Thymus	thymus
26	chr5:154321800-154338600	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:154321800-154352200	Weak transcription	Right Ventricle	heart
28	chr5:154322000-154330400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:154322000-154330400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr5:154322000-154350000	Weak transcription	Fetal Brain Male	brain
31	chr5:154322200-154324600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:154322200-154325000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr5:154322200-154325400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:154322200-154329400	Weak transcription	Psoas Muscle	Psoas
35	chr5:154322200-154336600	Weak transcription	Osteobl	bone
36	chr5:154322200-154338800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:154322400-154324400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:154322400-154324600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:154322400-154324800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:154322400-154324800	Weak transcription	Brain Germinal Matrix	brain
41	chr5:154322400-154324800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:154322400-154326800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr5:154322400-154330200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:154322400-154335200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:154322400-154335800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:154322400-154336200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:154322400-154336200	Weak transcription	Fetal Intestine Large	intestine
48	chr5:154322400-154336400	Weak transcription	HSMM	muscle
49	chr5:154322400-154336600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:154322400-154337800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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