Variant report

Variant	rs2605580
Chromosome Location	chr11:93147054-93147055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93139427..93141388-chr11:93145450..93147867,2	K562	blood:
2	chr11:93139427..93141896-chr11:93145102..93147867,3	K562	blood:

Variant related genes	Relation type
ENSG00000221565	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1456238	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1869914	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1975820	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2259633	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2605574	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2605581	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2658773	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2658775	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2658791	0.81[EUR][1000 genomes]
rs2925355	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2925362	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2925938	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3019205	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019206	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019221	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3019222	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3019223	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3020057	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3020073	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3020076	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3020083	0.82[EUR][1000 genomes]
rs72972357	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72972364	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv1035530	chr11:93114111-93148948	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv555941	chr11:93129893-93181050	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv439	chr11:93135936-93171682	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv508649	chr11:93140899-93181092	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2605580	CCDC67	cis	Thyroid	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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