Variant report

Variant	rs60254168
Chromosome Location	chr2:172071474-172071475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11887065	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11887508	0.83[EUR][1000 genomes]
rs11893921	0.87[EUR][1000 genomes]
rs11893993	0.84[EUR][1000 genomes]
rs12473405	0.84[EUR][1000 genomes]
rs12614003	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17283355	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4668372	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4668373	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4668374	0.85[EUR][1000 genomes]
rs4668375	0.85[EUR][1000 genomes]
rs6433284	0.81[EUR][1000 genomes]
rs6713640	0.87[EUR][1000 genomes]
rs6724085	0.84[EUR][1000 genomes]
rs7568175	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7568580	0.96[ASN][1000 genomes]
rs7582508	0.94[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172067800-172073400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:172069400-172073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:172070600-172072000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:172070800-172071600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:172070800-172071800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:172070800-172072000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:172070800-172072000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:172070800-172072000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:172070800-172072000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:172070800-172072000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:172070800-172072000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:172071000-172071600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:172071000-172072000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:172071400-172071600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:172071400-172073000	Weak transcription	NHEK	skin
16	chr2:172071400-172073200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:172071400-172073600	Enhancers	iPS-20b 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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