Variant report

Variant	rs6912992
Chromosome Location	chr6:131015386-131015387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr6:131015022-131015401	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000229923	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10456989	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10456991	1.00[ASN][1000 genomes]
rs10457558	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190916	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192664	1.00[ASN][1000 genomes]
rs12197236	1.00[ASN][1000 genomes]
rs12200243	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200889	1.00[ASN][1000 genomes]
rs12207323	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207401	1.00[ASN][1000 genomes]
rs12207735	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210483	1.00[ASN][1000 genomes]
rs1396249	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1603657	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059473	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17829411	0.80[CEU][hapmap];0.81[MEX][hapmap]
rs2221651	0.94[EUR][1000 genomes]
rs28580091	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34043716	1.00[ASN][1000 genomes]
rs34157430	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34261251	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4549635	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569700	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6906238	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937306	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940545	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71572935	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483175	0.83[EUR][1000 genomes];1.00[ASN][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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6912992	MOXD1	cis	parietal	SCAN
rs6912992	ECHDC1	cis	cerebellum	SCAN
rs6912992	MRPL30	trans	cerebellum	SCAN
rs6912992	KCTD8	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131005600-131017800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:131014200-131016400	Enhancers	Ovary	ovary
3	chr6:131014600-131016200	Enhancers	Primary T cells from cord blood	blood
4	chr6:131014800-131015600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr6:131014800-131015800	Enhancers	Dnd41	blood
6	chr6:131014800-131016200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:131014800-131018400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:131015000-131015400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr6:131015200-131015400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:131015200-131015800	Enhancers	Primary T helper cells fromperipheralblood	blood

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