Variant report

Variant	rs2248764
Chromosome Location	chr1:69697096-69697097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12027589	0.94[ASN][1000 genomes]
rs12031330	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12044113	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1460222	0.94[ASN][1000 genomes]
rs2248186	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2248429	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2248430	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2248557	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2248562	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2815432	0.94[ASN][1000 genomes]
rs2815435	0.89[ASN][1000 genomes]
rs5010843	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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	nsv830115	chr1:69593494-69736995	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1299	chr1:69687227-69732225	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1840142	chr1:69692232-69728843	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69694000-69697200	Weak transcription	Adipose Nuclei	Adipose
2	chr1:69696000-69697200	Enhancers	Liver	Liver
3	chr1:69696200-69697200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:69696200-69697200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:69696600-69698800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:69696600-69699600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:69696800-69697200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:69696800-69699400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:69696800-69699600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:69696800-69699800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:69697000-69697200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:69697000-69699400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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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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