Variant report

Variant	rs2048625
Chromosome Location	chr3:99246539-99246540
allele	A/T
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:15)

rs_ID	r²[population]
rs1355763	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513309	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1513314	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16841267	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16841271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16841275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16841328	1.00[ASN][1000 genomes]
rs16841381	1.00[EUR][1000 genomes]
rs2700669	0.90[ASN][1000 genomes]
rs4928135	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4928197	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4928198	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4928199	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56263521	1.00[EUR][1000 genomes]
rs7647877	1.00[EUR][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	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv530026	chr3:98837320-99340537	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3422853	chr3:99208019-99342748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr3:99242600-99254000	Weak transcription	HUVEC	blood vessel
2	chr3:99243400-99248400	Weak transcription	NHDF-Ad	bronchial
3	chr3:99243400-99251000	Weak transcription	Osteobl	bone
4	chr3:99243600-99247800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:99245600-99246800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:99245600-99247000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:99245800-99247000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:99246000-99246600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:99246000-99246800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:99246000-99247000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:99246200-99247000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr3:99246200-99247000	Enhancers	Aorta	Aorta
13	chr3:99246200-99254200	Weak transcription	NHLF	lung
14	chr3:99246400-99248600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:99246400-99248800	Weak transcription	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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