Variant report

Variant	rs4899298
Chromosome Location	chr14:69985498-69985499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1275730	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1275736	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2145946	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2756966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902727	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7140978	0.80[MEX][hapmap]
rs7144320	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147881	0.80[MEX][hapmap]

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	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv510642	chr14:69983293-70030335	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4899298	INPP5E	cis	Cerebellum	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69984200-69985600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:69984400-69985600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:69984400-69985600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:69984400-69986000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:69985000-69986400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:69985000-69986800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:69985200-69985600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:69985200-69986400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:69985400-69985800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr14:69985400-69985800	Bivalent Enhancer	Fetal Thymus	thymus
11	chr14:69985400-69986000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:69985400-69986200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:69985400-69986400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:69985400-69986400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr14:69985400-69986400	Enhancers	Fetal Muscle Leg	muscle
16	chr14:69985400-69986600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:69985400-69986600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr14:69985400-69986800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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