Variant report

Variant	rs1998641
Chromosome Location	chr6:147238475-147238476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1467623	0.83[JPT][hapmap]
rs4895704	0.88[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.81[ASN][1000 genomes]
rs6928486	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs724774	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs877660	0.83[JPT][hapmap]
rs912577	0.88[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs912580	0.83[JPT][hapmap]
rs9377035	0.81[ASN][1000 genomes]
rs9390439	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9390440	0.82[EUR][1000 genomes]
rs9399589	0.88[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs9399590	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9399591	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9403825	0.80[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.80[ASN][1000 genomes]
rs9403828	0.88[CEU][hapmap];0.80[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.83[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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2760996	chr6:147229457-147269633	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1998641	RAB32	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147237200-147238600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:147237200-147238800	Enhancers	NHEK	skin
3	chr6:147237200-147240200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:147237400-147239000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:147237800-147238800	Weak transcription	HUVEC	blood vessel
6	chr6:147238000-147238600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:147238000-147240000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:147238400-147238600	Enhancers	Pancreas	Pancrea
9	chr6:147238400-147238600	Flanking Active TSS	K562	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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