Variant report

Variant	rs2006996
Chromosome Location	chr9:117592638-117592639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16931910	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2208641	0.90[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs3827818	0.92[MEX][hapmap]
rs4979462	0.90[CHB][hapmap]
rs911604	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs998410	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831695	chr9:117567626-117726247	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Ulcerative colitis or Crohn's disease	21699788	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2006996	MDK	trans	brain	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117591800-117593200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr9:117591800-117593400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:117592000-117593000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:117592000-117593200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr9:117592200-117593000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:117592200-117593000	Enhancers	Adipose Nuclei	Adipose
7	chr9:117592400-117593000	Enhancers	Osteobl	bone

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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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