Variant report

Variant	rs4275936
Chromosome Location	chr18:43662122-43662123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43660484..43663563-chr18:43665888..43668889,3	K562	blood:

Variant related genes	Relation type
ENSG00000152234	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12709735	0.83[ASN][1000 genomes]
rs1964984	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2578183	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2578192	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2850646	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35935345	0.81[AMR][1000 genomes]
rs3745002	0.81[AMR][1000 genomes]
rs3753069	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7239525	0.82[AMR][1000 genomes]
rs9950234	0.81[AMR][1000 genomes]
rs9955008	0.82[AMR][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	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4275936	C18orf25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43652600-43662200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:43652600-43662600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:43652600-43663000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:43652600-43663200	Weak transcription	Esophagus	oesophagus
5	chr18:43652600-43665000	Weak transcription	Aorta	Aorta
6	chr18:43652800-43662600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:43652800-43664000	Weak transcription	K562	blood
8	chr18:43653000-43662600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr18:43653000-43663000	Weak transcription	Fetal Brain Male	brain
10	chr18:43653200-43663200	Weak transcription	Psoas Muscle	Psoas
11	chr18:43653400-43663800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr18:43653600-43662400	Weak transcription	Colonic Mucosa	Colon
13	chr18:43653600-43662600	Weak transcription	Ovary	ovary
14	chr18:43653600-43662600	Weak transcription	Right Ventricle	heart
15	chr18:43653600-43662800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr18:43653600-43662800	Weak transcription	Pancreas	Pancrea
17	chr18:43653600-43662800	Weak transcription	Spleen	Spleen
18	chr18:43653600-43663200	Weak transcription	Gastric	stomach
19	chr18:43653600-43665400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:43653600-43666200	Weak transcription	Stomach Mucosa	stomach
21	chr18:43653600-43669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:43653800-43662800	Weak transcription	Fetal Lung	lung
23	chr18:43653800-43663200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr18:43653800-43663400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr18:43654200-43665800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr18:43655400-43666600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:43656200-43667800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:43657000-43668400	Strong transcription	GM12878-XiMat	blood
29	chr18:43657000-43672200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr18:43657200-43664600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr18:43657200-43669600	Strong transcription	Primary B cells from cord blood	blood
32	chr18:43657200-43673800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr18:43657200-43674800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:43657200-43674800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr18:43657200-43675000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:43657200-43675400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr18:43657200-43675400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr18:43657200-43675600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr18:43657200-43676000	Strong transcription	Osteobl	bone
40	chr18:43657200-43676200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr18:43657400-43669400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:43657400-43673400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr18:43657400-43674600	Strong transcription	Liver	Liver
44	chr18:43657400-43674800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr18:43657400-43675000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr18:43657400-43675200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr18:43657400-43675400	Strong transcription	Placenta	Placenta
48	chr18:43657400-43675800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr18:43657400-43675800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr18:43657600-43669400	Strong transcription	Fetal Thymus	thymus

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