Variant report

Variant	rs7824479
Chromosome Location	chr8:61239553-61239554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10092218	0.85[CEU][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12542601	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs12680649	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12708003	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap]
rs13279521	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1585888	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16925984	0.88[YRI][hapmap]
rs16925991	0.88[YRI][hapmap]
rs16925993	0.86[YRI][hapmap]
rs16926008	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893275	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34334893	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35966938	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41337844	0.88[YRI][hapmap]
rs7011237	0.82[CEU][hapmap]
rs7814995	0.88[YRI][hapmap]
rs7833440	0.87[YRI][hapmap]
rs899741	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs922610	0.93[CHD][hapmap];0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7824479	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61237800-61239600	Enhancers	K562	blood
2	chr8:61238200-61240000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr8:61238200-61240400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:61238200-61240600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:61238200-61240600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:61238200-61242200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:61238600-61242400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:61239000-61240600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:61239400-61239600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:61239400-61241000	Weak transcription	Primary hematopoietic stem cells	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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