Variant report

Variant	rs1344464
Chromosome Location	chr2:59526280-59526281
allele	G/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:10)

rs_ID	r²[population]
rs10166053	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10190473	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10865312	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11125786	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11689998	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11691103	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11886801	0.82[EUR][1000 genomes]
rs11902415	0.82[EUR][1000 genomes]
rs13028418	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2418491	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834170	chr2:59436676-59604794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv582099	chr2:59494725-59563744	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1003668	chr2:59523642-59592144	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:59523600-59528400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:59523800-59528600	Weak transcription	Fetal Lung	lung
3	chr2:59523800-59528800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:59524800-59535000	Weak transcription	Fetal Thymus	thymus
5	chr2:59525200-59526400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:59525200-59528400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:59525400-59526400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:59525800-59526400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr2:59525800-59527000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:59526000-59526400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:59526000-59526400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:59526000-59526400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:59526200-59526400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:59526200-59528400	Weak transcription	HUES48 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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