Variant report

Variant	rs7302425
Chromosome Location	chr12:29591184-29591185
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10161540	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10219521	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10219541	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050171	0.88[CHB][hapmap]
rs11050231	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050232	0.94[EUR][1000 genomes]
rs11050234	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11050237	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[EUR][1000 genomes]
rs11050242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050243	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050247	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs11609415	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs11610542	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11610605	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11611065	0.89[EUR][1000 genomes]
rs11611499	0.91[EUR][1000 genomes]
rs11614232	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11614288	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11614744	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829375	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829418	0.86[TSI][hapmap]
rs11831164	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11831165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11833098	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11838057	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1369899	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1436314	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2042512	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2350531	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34137040	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35494573	0.91[EUR][1000 genomes]
rs3741751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56179940	0.91[EUR][1000 genomes]
rs56808425	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58171188	0.91[EUR][1000 genomes]
rs58359809	0.91[EUR][1000 genomes]
rs59273552	0.91[EUR][1000 genomes]
rs6487826	0.91[EUR][1000 genomes]
rs6487827	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7138552	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs7139305	0.88[CHB][hapmap]
rs7295922	0.88[ASW][hapmap];0.93[CEU][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7296554	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7297659	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7301354	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7302549	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7302700	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7306407	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7309876	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7311051	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7311329	0.89[EUR][1000 genomes]
rs7312547	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7313103	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73276833	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276902	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278706	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278726	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73278734	0.91[EUR][1000 genomes]
rs73278736	0.91[EUR][1000 genomes]
rs73278740	0.91[EUR][1000 genomes]
rs7489238	0.88[EUR][1000 genomes]
rs7953181	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs7953237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7954043	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963197	0.92[EUR][1000 genomes]
rs7964648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7964728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7964979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7965132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7965185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7975356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7977826	0.86[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7978026	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs878837	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs880267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[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	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv898952	chr12:29565537-29617550	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv973199	chr12:29584676-29595774	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29581600-29604200	Weak transcription	HSMMtube	muscle
2	chr12:29581800-29613600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:29588000-29607600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
6	chr12:29589600-29598200	Weak transcription	HSMM	muscle
7	chr12:29590200-29592800	Enhancers	HepG2	liver
8	chr12:29590800-29591400	Flanking Active TSS	Liver	Liver
9	chr12:29591000-29591200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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