Variant report

Variant	rs8096719
Chromosome Location	chr18:43642333-43642334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43631604..43634976-chr18:43639801..43643194,4	K562	blood:
2	chr18:43642172..43644592-chr18:43648279..43650859,2	MCF-7	breast:
3	chr18:43640313..43643242-chr18:43650888..43653303,2	K562	blood:
4	chr18:43641479..43644976-chr18:43650874..43653510,3	K562	blood:

Variant related genes	Relation type
ENSG00000152229	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12966247	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1964984	0.80[AMR][1000 genomes]
rs2578183	0.80[AMR][1000 genomes]
rs2578192	0.85[AMR][1000 genomes]
rs2850646	0.82[AMR][1000 genomes]
rs28524126	0.81[ASN][1000 genomes]
rs35935345	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3745002	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3753069	0.81[AMR][1000 genomes]
rs4890311	0.91[EUR][1000 genomes]
rs4890312	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6507663	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7238347	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7239525	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9950234	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9954534	0.81[ASN][1000 genomes]
rs9955008	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9958257	0.83[ASN][1000 genomes]
rs9962297	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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	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
rs8096719	C18orf25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
2	chr18:43632400-43651200	Weak transcription	Pancreas	Pancrea
3	chr18:43633200-43651200	Weak transcription	HSMMtube	muscle
4	chr18:43633400-43650200	Weak transcription	NHLF	lung
5	chr18:43633800-43647600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:43636200-43644000	Weak transcription	Osteobl	bone
7	chr18:43636400-43643400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:43636400-43644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:43636400-43647000	Weak transcription	Liver	Liver
10	chr18:43636400-43649200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr18:43636400-43650200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr18:43636600-43642400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr18:43636600-43649600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:43637000-43650000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr18:43639600-43642400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:43640400-43642400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:43640400-43642600	Enhancers	Spleen	Spleen
18	chr18:43640400-43644200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr18:43640800-43650400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr18:43641000-43648800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr18:43641000-43650000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr18:43641000-43650800	Weak transcription	Fetal Intestine Small	intestine
23	chr18:43641400-43643400	Enhancers	Placenta	Placenta
24	chr18:43641400-43644000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr18:43641400-43644800	Enhancers	HMEC	breast
26	chr18:43641400-43648800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr18:43641600-43642800	Enhancers	K562	blood
28	chr18:43641600-43644400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr18:43641600-43649000	Weak transcription	Left Ventricle	heart
30	chr18:43641800-43642800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr18:43641800-43644000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr18:43641800-43645000	Enhancers	NHEK	skin
33	chr18:43642000-43642400	Enhancers	Lung	lung
34	chr18:43642000-43642400	Enhancers	GM12878-XiMat	blood
35	chr18:43642000-43644800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr18:43642000-43645000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr18:43642200-43643800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:43642200-43644800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr18:43642200-43646200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr18:43642200-43646200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:43642200-43651000	Weak transcription	Gastric	stomach

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