Variant report

Variant	rs12438252
Chromosome Location	chr15:41881340-41881341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11070340	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11070341	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1819454	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28896245	0.84[ASN][1000 genomes]
rs7163022	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8026106	0.84[ASN][1000 genomes]
rs8038764	0.83[EUR][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	nsv1052902	chr15:41869277-41951572	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12438252	SPTBN5	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41878200-41882600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:41878200-41882600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:41878200-41885600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:41878400-41882600	Weak transcription	HepG2	liver
5	chr15:41878400-41884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:41878800-41883000	Enhancers	Placenta	Placenta
7	chr15:41878800-41885600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:41881200-41881800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:41881200-41884000	Enhancers	Fetal Intestine Large	intestine
10	chr15:41881200-41884000	Enhancers	Fetal Intestine Small	intestine
11	chr15:41881200-41895800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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Input of quick search could be:

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

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