Variant report

Variant	rs68139522
Chromosome Location	chr2:53330831-53330832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17044078	0.82[EUR][1000 genomes]
rs17044082	0.89[EUR][1000 genomes]
rs17044107	0.87[EUR][1000 genomes]
rs17044109	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17044113	0.91[EUR][1000 genomes]
rs58330496	0.84[EUR][1000 genomes]
rs60327066	0.85[EUR][1000 genomes]
rs61570270	0.89[EUR][1000 genomes]
rs66702426	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66801688	0.83[EUR][1000 genomes]
rs67002523	0.83[EUR][1000 genomes]
rs67051768	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6717300	0.89[EUR][1000 genomes]
rs67569557	0.86[EUR][1000 genomes]
rs67901982	0.82[EUR][1000 genomes]
rs72797245	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv874141	chr2:53263644-53352630	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv1011118	chr2:53328397-53375220	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53326200-53331000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:53330200-53331800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:53330200-53332000	Enhancers	HepG2	liver
4	chr2:53330200-53332200	Enhancers	Hela-S3	cervix
5	chr2:53330400-53331400	Enhancers	Brain Germinal Matrix	brain
6	chr2:53330400-53331600	Flanking Active TSS	A549	lung
7	chr2:53330600-53331000	Enhancers	Brain Hippocampus Middle	brain
8	chr2:53330600-53332200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:53330600-53332200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:53330600-53332400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:53330600-53332400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:53330600-53332400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:53330600-53332400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:53330800-53331200	Enhancers	Fetal Kidney	kidney
15	chr2:53330800-53331400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:53330800-53332200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:53330800-53332200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:53330800-53332400	Enhancers	ES-I3 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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