Variant report

Variant	rs2483424
Chromosome Location	chr13:39359708-39359709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2496406	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2496409	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7335905	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7338450	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7338488	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7992013	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9532278	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9548454	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9548455	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9566363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832585	chr13:39233307-39424375	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39338000-39365400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:39346600-39365000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr13:39346600-39370800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr13:39350600-39370600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:39356600-39373600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:39358200-39359800	Enhancers	Stomach Mucosa	stomach
7	chr13:39358800-39359800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr13:39358800-39360000	Active TSS	Fetal Stomach	stomach
9	chr13:39359000-39370600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:39359200-39375800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:39359400-39360000	Flanking Active TSS	Fetal Kidney	kidney
12	chr13:39359600-39359800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:39359600-39359800	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr13:39359600-39359800	Enhancers	Ovary	ovary
15	chr13:39359600-39360000	Enhancers	Fetal Intestine Large	intestine
16	chr13:39359600-39376800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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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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