Variant report

Variant	rs724023
Chromosome Location	chr14:25131460-25131461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10138102	1.00[CHB][hapmap];0.89[CHD][hapmap];0.84[ASN][1000 genomes]
rs10149297	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs17257145	0.89[ASN][1000 genomes]
rs1957519	0.89[ASN][1000 genomes]
rs4981546	0.87[ASN][1000 genomes]
rs4982977	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv510631	chr14:25045183-25172311	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs724023	OSGEP	cis	cerebellum	SCAN
rs724023	CDH24	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25128800-25131800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:25128800-25132000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:25129000-25134800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr14:25129000-25135200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:25129000-25135400	Enhancers	Primary hematopoietic stem cells	blood
6	chr14:25129600-25131600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:25129800-25133600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:25129800-25134400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:25130000-25132000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:25130000-25132000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr14:25130200-25132000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:25130400-25135400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:25130600-25133400	Enhancers	Fetal Thymus	thymus
14	chr14:25130800-25133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:25131000-25133200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:25131200-25131600	Enhancers	Left Ventricle	heart
17	chr14:25131200-25131600	Weak transcription	GM12878-XiMat	blood
18	chr14:25131200-25133200	Weak transcription	HMEC	breast
19	chr14:25131200-25133200	Weak transcription	NHEK	skin
20	chr14:25131400-25132400	Enhancers	Primary B cells from cord blood	blood
21	chr14:25131400-25132400	Enhancers	Fetal Muscle Leg	muscle
22	chr14:25131400-25135400	Enhancers	Primary T cells fromperipheralblood	blood

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