Variant report

Variant	rs7017939
Chromosome Location	chr8:61289742-61289743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10102945	0.86[EUR][1000 genomes]
rs10504312	0.84[EUR][1000 genomes]
rs11988766	0.84[EUR][1000 genomes]
rs6471873	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6991970	0.80[AFR][1000 genomes]
rs7001436	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7005668	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7814226	0.86[EUR][1000 genomes]

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	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
4	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
5	nsv890944	chr8:61252500-61307115	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7017939	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61284400-61293600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:61287000-61292600	Weak transcription	Spleen	Spleen
3	chr8:61287400-61289800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:61289000-61289800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:61289000-61289800	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:61289000-61289800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr8:61289000-61289800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:61289000-61289800	Enhancers	Fetal Thymus	thymus
9	chr8:61289400-61289800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr8:61289600-61290400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:61289600-61290600	Flanking Active TSS	K562	blood
12	chr8:61289600-61292200	Weak transcription	Monocytes-CD14+_RO01746	blood

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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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