Variant report

Variant	rs7913493
Chromosome Location	chr10:21643721-21643722
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10828238	0.94[ASN][1000 genomes]
rs11012681	0.94[ASN][1000 genomes]
rs12245880	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12269541	0.84[EUR][1000 genomes]
rs2039027	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2039028	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35776386	0.80[EUR][1000 genomes]
rs4381272	0.94[ASN][1000 genomes]
rs4448595	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58809874	0.94[ASN][1000 genomes]
rs7068408	0.94[ASN][1000 genomes]
rs7086407	0.94[ASN][1000 genomes]
rs7091815	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7098605	0.82[AMR][1000 genomes]
rs7898040	0.94[ASN][1000 genomes]
rs7923649	0.84[AMR][1000 genomes]
rs7923849	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv530148	chr10:21065080-21724565	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831807	chr10:21509185-21688043	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7913493	NEBL-AS1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21639400-21644800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr10:21639400-21644800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr10:21639600-21643800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:21639600-21644000	Weak transcription	HMEC	breast
5	chr10:21639600-21644200	Weak transcription	NHEK	skin
6	chr10:21639600-21644600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:21639600-21644600	Weak transcription	Osteobl	bone
8	chr10:21639600-21650800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:21639600-21650800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr10:21639600-21652000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:21639800-21644000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:21639800-21644000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:21640200-21644400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:21640600-21644600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:21640800-21648000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:21641600-21650000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:21642600-21644600	Weak transcription	A549	lung
18	chr10:21643200-21643800	Enhancers	Placenta	Placenta

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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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