Variant report

Variant	rs4642272
Chromosome Location	chr4:78626082-78626083
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78616697..78619248-chr4:78625271..78628203,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1809919	0.83[AMR][1000 genomes]
rs6533225	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4642272	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78617400-78634400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:78620600-78628000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:78621000-78629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:78621000-78631200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:78621200-78633200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:78621200-78635800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:78621400-78645800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:78621600-78643800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:78622000-78638800	Weak transcription	NHEK	skin
10	chr4:78622400-78630800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:78622800-78629800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:78623400-78633000	Weak transcription	HSMM	muscle
13	chr4:78623800-78633000	Weak transcription	HSMMtube	muscle
14	chr4:78625000-78628000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:78625000-78628000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:78625000-78628000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:78625000-78631200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:78625000-78638800	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:78625200-78627800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:78625200-78631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:78626000-78626400	Enhancers	Fetal Muscle Trunk	muscle
22	chr4:78626000-78627800	Weak transcription	Fetal Lung	lung

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