Variant report

Variant	rs1817270
Chromosome Location	chr12:41853332-41853333
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10161143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11180971	0.88[AMR][1000 genomes]
rs12298553	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12299762	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12300549	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12305318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12305552	0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12307517	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12314242	0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12314805	0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1350433	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1458155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1534277	0.83[CHD][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap]
rs17129267	0.93[JPT][hapmap];1.00[MEX][hapmap]
rs17129287	0.93[JPT][hapmap]
rs17129295	0.93[JPT][hapmap]
rs17129296	0.93[JPT][hapmap]
rs17129305	0.93[JPT][hapmap]
rs17129347	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17129351	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17129364	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17129405	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17129413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17129441	0.91[CHB][hapmap];0.84[AMR][1000 genomes]
rs2034922	0.84[AMR][1000 genomes]
rs2405924	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2897270	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35577124	0.88[AMR][1000 genomes]
rs3761676	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4635145	0.91[MEX][hapmap];0.88[AMR][1000 genomes]
rs56394503	0.88[ASN][1000 genomes]
rs57991277	0.84[AMR][1000 genomes]
rs58573939	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59662716	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60903037	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6582337	0.91[MEX][hapmap];0.88[AMR][1000 genomes]
rs713288	0.84[AMR][1000 genomes]
rs7133340	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7297699	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7305541	0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs7307387	0.91[CHB][hapmap];0.88[AMR][1000 genomes]
rs731979	0.88[AMR][1000 genomes]
rs73274484	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73278055	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74077585	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs74077591	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7960293	0.82[CHB][hapmap];0.88[AMR][1000 genomes]
rs7966351	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3501985	chr12:41847710-41863530	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
3	esv3501996	chr12:41847724-41863526	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
4	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41829600-41860600	Weak transcription	Aorta	Aorta
2	chr12:41848600-41860800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:41852200-41853400	Enhancers	Brain Germinal Matrix	brain
4	chr12:41852200-41854000	Enhancers	Fetal Brain Female	brain
5	chr12:41852400-41853400	Enhancers	Colon Smooth Muscle	Colon
6	chr12:41852400-41853800	Enhancers	Fetal Lung	lung
7	chr12:41852400-41854000	Enhancers	Fetal Brain Male	brain
8	chr12:41852600-41854800	Enhancers	Brain Angular Gyrus	brain
9	chr12:41852600-41855000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr12:41852800-41853800	Enhancers	Brain Substantia Nigra	brain
11	chr12:41852800-41855000	Enhancers	Brain Anterior Caudate	brain
12	chr12:41852800-41857800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:41853200-41854800	Enhancers	Brain Hippocampus Middle	brain
14	chr12:41853200-41855000	Enhancers	Brain Cingulate Gyrus	brain

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