Variant report

Variant	rs2103073
Chromosome Location	chr5:154148804-154148805
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:154133078..154137845-chr5:154142563..154149366,9	MCF-7	breast:
2	chr5:154141399..154144040-chr5:154148555..154150698,2	MCF-7	breast:
3	chr5:154132476..154143251-chr5:154145354..154162500,38	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155506	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13164115	1.00[AFR][1000 genomes]
rs13177143	1.00[AFR][1000 genomes]
rs13178728	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13182236	1.00[AFR][1000 genomes]
rs2434218	1.00[AFR][1000 genomes]
rs35838764	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs816735	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830521	chr5:154147567-154244266	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3398099	chr5:154148635-154149085	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2103073	CNOT8	cis	Nerve Tibial	GTEx
rs2103073	CNOT8	cis	Artery Tibial	GTEx
rs2103073	CNOT8	cis	lung	GTEx
rs2103073	CNOT8	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154138200-154151400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr5:154138200-154156000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr5:154138800-154150000	Weak transcription	HSMM	muscle
4	chr5:154139000-154149800	Weak transcription	NHLF	lung
5	chr5:154140200-154149200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:154141000-154150000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr5:154141200-154150600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:154141200-154151000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:154141400-154152200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:154142600-154149000	Weak transcription	Hela-S3	cervix
11	chr5:154143200-154150600	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:154143600-154149200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:154144400-154149000	Enhancers	Fetal Thymus	thymus
14	chr5:154144400-154151800	Genic enhancers	K562	blood
15	chr5:154144600-154150200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:154144600-154150800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:154144600-154151600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:154144600-154151600	Enhancers	Brain Anterior Caudate	brain
19	chr5:154144600-154151600	Enhancers	Left Ventricle	heart
20	chr5:154144600-154157200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr5:154144800-154150200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:154144800-154150400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:154144800-154150800	Enhancers	Primary B cells from cord blood	blood
24	chr5:154145000-154150200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:154145000-154150600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:154145400-154151600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:154145800-154150800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:154146000-154149200	Weak transcription	Fetal Kidney	kidney
29	chr5:154146600-154153800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:154146800-154149400	Weak transcription	Placenta	Placenta
31	chr5:154147400-154149400	Weak transcription	Fetal Lung	lung
32	chr5:154147400-154150200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr5:154147400-154161800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:154147600-154149000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:154147600-154149000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:154147600-154149000	Weak transcription	A549	lung
37	chr5:154147600-154149200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:154147600-154149200	Weak transcription	NHDF-Ad	bronchial
39	chr5:154147600-154149600	Weak transcription	Fetal Stomach	stomach
40	chr5:154147600-154150000	Weak transcription	Brain Germinal Matrix	brain
41	chr5:154147600-154150000	Weak transcription	HepG2	liver
42	chr5:154147600-154150200	Enhancers	Primary T cells from cord blood	blood
43	chr5:154147600-154150600	Weak transcription	NH-A	brain
44	chr5:154147600-154150800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr5:154147600-154150800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:154147600-154151600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr5:154147800-154149200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:154147800-154150000	Weak transcription	Osteobl	bone
49	chr5:154147800-154150600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:154148200-154150600	Enhancers	Lung	lung

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