Variant report

Variant	rs7305919
Chromosome Location	chr12:41602979-41602980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10748267	0.92[ASN][1000 genomes]
rs10785186	0.86[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10879831	0.85[ASN][1000 genomes]
rs10879858	0.95[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs10879867	0.95[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10879897	0.82[CEU][hapmap]
rs10879899	0.82[GIH][hapmap];0.83[TSI][hapmap]
rs11180448	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12829840	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1431104	0.95[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs1431110	0.94[ASN][1000 genomes]
rs1431112	0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1527086	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs1864611	0.95[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs1864613	0.95[CHB][hapmap];0.94[ASN][1000 genomes]
rs2163416	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs281830	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4238081	0.91[ASN][1000 genomes]
rs4767999	0.90[ASN][1000 genomes]
rs4768334	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6582240	0.82[JPT][hapmap]
rs7303285	0.82[JPT][hapmap]
rs7342366	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs7954881	0.92[ASN][1000 genomes]
rs7960429	0.85[CEU][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap]
rs7963760	0.91[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs975602	0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7305919	CNTN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41600000-41605400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:41600000-41606800	Weak transcription	Aorta	Aorta
3	chr12:41600000-41606800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:41600800-41604800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:41602200-41607000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:41602400-41604400	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links