Variant report

Variant	rs12307517
Chromosome Location	chr12:41804988-41804989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10161143	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11180971	0.88[AMR][1000 genomes]
rs12298553	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12299762	0.95[ASN][1000 genomes]
rs12300549	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12305318	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12305552	0.93[ASN][1000 genomes]
rs12314242	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12314805	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1350433	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1379778	0.81[AMR][1000 genomes]
rs1458155	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17129351	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17129364	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17129405	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17129413	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17129441	0.83[AMR][1000 genomes]
rs1817270	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2034922	0.83[AMR][1000 genomes]
rs2405924	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2897270	0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35577124	0.88[AMR][1000 genomes]
rs3761676	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4635145	0.88[AMR][1000 genomes]
rs56394503	0.84[ASN][1000 genomes]
rs57991277	0.83[AMR][1000 genomes]
rs58573939	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59662716	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60903037	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6582337	0.88[AMR][1000 genomes]
rs713288	0.84[AMR][1000 genomes]
rs7133340	0.95[ASN][1000 genomes]
rs7297699	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7307387	0.88[AMR][1000 genomes]
rs731979	0.88[AMR][1000 genomes]
rs73274484	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73278055	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs74077585	0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74077591	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7960293	0.88[AMR][1000 genomes]
rs7966351	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	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
3	nsv899036	chr12:41777144-41807859	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv899037	chr12:41777144-41819215	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1044910	chr12:41778831-41813198	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
6	esv2761735	chr12:41780758-41811938	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
7	esv2757501	chr12:41780758-41816002	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
8	esv2759896	chr12:41780758-41816002	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv2755020	chr12:41780758-41820936	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv899038	chr12:41784137-41819215	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv818915	chr12:41784997-41811063	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
12	nsv899039	chr12:41784997-41813207	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
13	nsv1050627	chr12:41789891-41809009	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41801600-41805000	Weak transcription	Fetal Brain Male	brain
2	chr12:41802800-41808600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:41804800-41808400	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links