Variant report

Variant	rs7152486
Chromosome Location	chr14:77945319-77945320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11851627	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8021513	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs8135	0.92[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][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	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7152486	NGFRAP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77936200-77948600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:77936400-77946000	Weak transcription	Brain Angular Gyrus	brain
3	chr14:77936600-77947200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:77940600-77948600	Weak transcription	Fetal Kidney	kidney
5	chr14:77940800-77945400	Strong transcription	HepG2	liver
6	chr14:77942400-77949000	Weak transcription	Placenta	Placenta
7	chr14:77944600-77945600	Enhancers	GM12878-XiMat	blood
8	chr14:77944800-77945400	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:77945000-77945400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:77945000-77948800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:77945000-77951800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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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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