Variant report

Variant	rs10930468
Chromosome Location	chr2:172146101-172146102
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10754977	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10803858	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10803859	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10930464	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10930466	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11695238	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11891021	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11903215	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6727785	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6743965	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7349362	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs888272	0.87[AMR][1000 genomes];0.87[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172143400-172146600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:172143600-172147200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:172144000-172149600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:172144000-172154200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:172144200-172146400	Weak transcription	NHDF-Ad	bronchial
6	chr2:172144200-172149800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:172144200-172171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:172144400-172146800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:172144400-172150000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:172144600-172146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:172144600-172149800	Weak transcription	NHEK	skin
12	chr2:172145400-172146600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:172146000-172146200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:172146000-172146400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:172146000-172146600	Enhancers	Fetal Muscle Leg	muscle

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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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