Variant report

Variant	rs12468735
Chromosome Location	chr2:21275825-21275826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11127270	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1713223	0.92[CEU][hapmap]
rs312956	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs512535	0.82[CEU][hapmap]
rs547186	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs563476	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs565202	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs571468	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs588245	0.85[CEU][hapmap]
rs594677	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs634292	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs661665	0.81[EUR][1000 genomes]
rs664894	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs666126	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs675430	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21270600-21276000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:21270600-21276400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:21271000-21276200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:21271000-21276400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:21271000-21276800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:21271200-21279000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:21274400-21278800	Enhancers	HepG2	liver
8	chr2:21275600-21278200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:21275800-21276000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:21275800-21276400	Enhancers	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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