Variant report

Variant	rs60398014
Chromosome Location	chr2:53339849-53339850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17044078	0.96[EUR][1000 genomes]
rs17044082	0.82[EUR][1000 genomes]
rs17044107	0.90[EUR][1000 genomes]
rs17044109	0.84[EUR][1000 genomes]
rs17044113	0.81[EUR][1000 genomes]
rs58330496	0.90[EUR][1000 genomes]
rs60327066	0.87[EUR][1000 genomes]
rs66702426	0.88[EUR][1000 genomes]
rs66801688	0.88[EUR][1000 genomes]
rs67002523	0.85[EUR][1000 genomes]
rs67569557	0.91[EUR][1000 genomes]
rs67901982	0.96[EUR][1000 genomes]
rs72797245	0.87[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53332400-53340200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:53338400-53340800	Weak transcription	Fetal Brain Male	brain
3	chr2:53338400-53341400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:53338400-53362600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:53338600-53341600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:53339000-53340000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:53339000-53340000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:53339000-53340200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:53339600-53340200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:53339600-53340200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:53339800-53340000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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