Variant report

Variant	rs2190893
Chromosome Location	chr7:39434312-39434313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10248165	0.83[CHB][hapmap];0.83[CHD][hapmap];0.80[ASN][1000 genomes]
rs10258232	0.88[YRI][hapmap]
rs10259786	0.84[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10269183	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs10282168	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10951603	0.81[JPT][hapmap]
rs1990243	0.81[CHD][hapmap]
rs2190892	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2237402	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237403	0.81[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2237404	0.82[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3778934	0.88[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56408610	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58695218	0.82[AFR][1000 genomes]
rs61223906	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs917401	0.80[ASN][1000 genomes]
rs933370	0.89[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][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	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv981456	chr7:39431071-39454006	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2190893	CDK13	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39432400-39439600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:39432400-39439800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:39433200-39434400	Weak transcription	HSMMtube	muscle
4	chr7:39433200-39439400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:39434000-39438800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:39434200-39434400	Enhancers	Fetal Kidney	kidney

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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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