Variant report

Variant	rs958543
Chromosome Location	chr12:60658510-60658511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60657376..60660330-chr12:60692662..60694412,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10747870	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10784028	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10784029	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10784033	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10877398	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877399	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877401	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10877402	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10877403	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10877406	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10877412	0.85[EUR][1000 genomes]
rs10877413	0.87[EUR][1000 genomes]
rs10877414	0.86[EUR][1000 genomes]
rs11173338	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11173357	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11173361	0.80[EUR][1000 genomes]
rs11173365	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11173367	0.82[EUR][1000 genomes]
rs11173371	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11173386	0.89[EUR][1000 genomes]
rs11173387	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173389	0.87[EUR][1000 genomes]
rs11173391	0.87[EUR][1000 genomes]
rs11173392	0.87[EUR][1000 genomes]
rs11173393	0.87[EUR][1000 genomes]
rs11173395	0.86[EUR][1000 genomes]
rs11173397	0.86[EUR][1000 genomes]
rs11173398	0.86[EUR][1000 genomes]
rs11561446	0.87[EUR][1000 genomes]
rs11561447	0.87[EUR][1000 genomes]
rs11836206	0.87[EUR][1000 genomes]
rs12228823	0.87[EUR][1000 genomes]
rs12230599	0.84[EUR][1000 genomes]
rs12817959	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12830074	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1304313	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1319775	0.85[EUR][1000 genomes]
rs1354469	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1389255	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1389256	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1493311	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1493318	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1504442	0.89[EUR][1000 genomes]
rs1504443	0.89[EUR][1000 genomes]
rs1504444	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1587821	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1910674	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1995515	0.88[EUR][1000 genomes]
rs2014074	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2134882	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2202365	0.85[EUR][1000 genomes]
rs2221407	0.86[EUR][1000 genomes]
rs2363600	0.87[EUR][1000 genomes]
rs35713358	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3847662	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3847663	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3907482	0.88[AMR][1000 genomes]
rs3920119	0.87[EUR][1000 genomes]
rs4093759	0.86[AMR][1000 genomes]
rs4143650	0.83[EUR][1000 genomes]
rs4254103	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4265627	0.83[EUR][1000 genomes]
rs4347425	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4366523	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4406858	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4625509	0.82[AMR][1000 genomes]
rs4758855	0.83[AMR][1000 genomes]
rs4758858	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4758859	0.89[EUR][1000 genomes]
rs55661627	0.80[EUR][1000 genomes]
rs56240683	0.87[EUR][1000 genomes]
rs60691341	0.86[EUR][1000 genomes]
rs61487567	0.88[EUR][1000 genomes]
rs61923074	0.81[EUR][1000 genomes]
rs61923092	0.83[EUR][1000 genomes]
rs61923093	0.82[EUR][1000 genomes]
rs61923121	0.85[EUR][1000 genomes]
rs61923124	0.89[EUR][1000 genomes]
rs61923127	0.89[EUR][1000 genomes]
rs61923129	0.89[EUR][1000 genomes]
rs61923130	0.88[EUR][1000 genomes]
rs61923132	0.88[EUR][1000 genomes]
rs61923155	0.88[EUR][1000 genomes]
rs6581305	0.83[EUR][1000 genomes]
rs6581310	0.86[EUR][1000 genomes]
rs7131926	0.82[EUR][1000 genomes]
rs7134267	0.87[EUR][1000 genomes]
rs7134663	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7136435	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7136994	0.84[EUR][1000 genomes]
rs7138626	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7138854	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7295183	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7297548	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7298315	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7300532	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7306226	0.85[EUR][1000 genomes]
rs7312225	0.94[EUR][1000 genomes]
rs7313364	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7952971	0.86[EUR][1000 genomes]
rs7953857	0.88[EUR][1000 genomes]
rs7957100	0.86[EUR][1000 genomes]
rs7957295	0.86[EUR][1000 genomes]
rs7960292	0.85[EUR][1000 genomes]
rs7960303	0.85[EUR][1000 genomes]
rs7960487	0.85[EUR][1000 genomes]
rs7961221	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7961816	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7967860	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7973156	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7977065	0.86[AMR][1000 genomes]
rs924836	0.86[EUR][1000 genomes]
rs959645	0.84[EUR][1000 genomes]
rs9634280	0.89[EUR][1000 genomes]
rs9634281	0.89[EUR][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	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832431	chr12:60626292-60809233	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs958543	KIAA1143	trans	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60657200-60659600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60657200-60659800	Weak transcription	HUVEC	blood vessel
3	chr12:60657200-60660600	Enhancers	Hela-S3	cervix
4	chr12:60657400-60659400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:60658200-60659600	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links