Variant report

Variant	rs7312017
Chromosome Location	chr12:48954225-48954226
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10875833	0.86[ASN][1000 genomes]
rs11168599	0.94[JPT][hapmap]
rs11168637	0.84[CHB][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.86[ASN][1000 genomes]
rs11458	0.94[JPT][hapmap]
rs12371700	0.94[JPT][hapmap]
rs12815544	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1807757	0.83[TSI][hapmap]
rs2114322	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2731091	0.89[CEU][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs2731094	0.89[CEU][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs2731102	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs2956467	0.89[CEU][hapmap]
rs7958521	0.94[JPT][hapmap]
rs7974213	0.94[JPT][hapmap]
rs7976324	0.81[ASN][1000 genomes]
rs7980421	0.84[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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1047600	chr12:48927514-48954225	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1048307	chr12:48927514-48958949	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7312017	CCNT1	cis	cerebellum	SCAN
rs7312017	RPAP3	cis	cerebellum	SCAN
rs7312017	LIMA1	cis	cerebellum	SCAN

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

No data

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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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