Variant report

Variant	rs4768769
Chromosome Location	chr12:47423032-47423033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10736030	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.99[ASN][1000 genomes]
rs10748457	0.94[ASN][1000 genomes]
rs10748458	0.94[ASN][1000 genomes]
rs10748460	0.94[ASN][1000 genomes]
rs10785649	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10785650	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs10785653	0.94[ASN][1000 genomes]
rs10881023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10881024	0.99[ASN][1000 genomes]
rs10881025	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs10881026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10881030	0.94[ASN][1000 genomes]
rs10881031	0.94[ASN][1000 genomes]
rs11183695	0.96[EUR][1000 genomes]
rs17097518	0.80[CHD][hapmap];0.86[JPT][hapmap]
rs2158133	0.94[ASN][1000 genomes]
rs2263492	0.87[EUR][1000 genomes]
rs2408647	0.87[EUR][1000 genomes]
rs2408711	0.94[ASN][1000 genomes]
rs2522258	0.87[EUR][1000 genomes]
rs2522263	0.84[EUR][1000 genomes]
rs2522269	0.87[EUR][1000 genomes]
rs2522275	0.95[EUR][1000 genomes]
rs2711695	0.92[EUR][1000 genomes]
rs2711699	0.94[EUR][1000 genomes]
rs2711702	0.95[EUR][1000 genomes]
rs2711713	0.94[ASN][1000 genomes]
rs7136412	0.99[ASN][1000 genomes]
rs7139043	0.98[ASN][1000 genomes]
rs7139072	0.95[EUR][1000 genomes]
rs7305283	0.95[EUR][1000 genomes]
rs7311552	0.94[ASN][1000 genomes]
rs757149	0.94[ASN][1000 genomes]
rs757150	0.94[ASN][1000 genomes]
rs7958499	0.94[ASN][1000 genomes]
rs7958568	0.91[MEX][hapmap]
rs7961460	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs7976595	0.98[ASN][1000 genomes]
rs7978006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7979771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8181633	0.94[ASN][1000 genomes]
rs886315	0.94[ASN][1000 genomes]
rs886317	0.91[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	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4768769	CCNT1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47418000-47428400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:47418400-47426600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:47419200-47426600	Weak transcription	Osteobl	bone
4	chr12:47422800-47423800	Enhancers	A549	lung

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