Variant report

Variant	rs12830074
Chromosome Location	chr12:60628751-60628752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10747870	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10784028	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10784029	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10784033	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10877398	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877399	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877401	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10877402	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10877403	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10877406	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10877412	0.81[EUR][1000 genomes]
rs10877413	0.83[EUR][1000 genomes]
rs10877414	0.82[EUR][1000 genomes]
rs11173338	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11173351	0.83[EUR][1000 genomes]
rs11173357	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11173359	0.85[EUR][1000 genomes]
rs11173361	0.86[EUR][1000 genomes]
rs11173365	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11173367	0.87[EUR][1000 genomes]
rs11173371	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11173386	0.83[EUR][1000 genomes]
rs11173387	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11173389	0.83[EUR][1000 genomes]
rs11173391	0.83[EUR][1000 genomes]
rs11173392	0.83[EUR][1000 genomes]
rs11173393	0.83[EUR][1000 genomes]
rs11173395	0.82[EUR][1000 genomes]
rs11173397	0.82[EUR][1000 genomes]
rs11173398	0.82[EUR][1000 genomes]
rs11561446	0.83[EUR][1000 genomes]
rs11561447	0.83[EUR][1000 genomes]
rs11836206	0.83[EUR][1000 genomes]
rs12226976	0.80[EUR][1000 genomes]
rs12228823	0.81[EUR][1000 genomes]
rs12817959	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1304313	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1319775	0.87[EUR][1000 genomes]
rs1354469	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1389255	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1389256	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1493311	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1493318	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1504442	0.83[EUR][1000 genomes]
rs1504443	0.83[EUR][1000 genomes]
rs1504444	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1587821	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1910674	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1995515	0.83[EUR][1000 genomes]
rs2014074	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2134882	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2202365	0.81[EUR][1000 genomes]
rs2221407	0.82[EUR][1000 genomes]
rs2363600	0.83[EUR][1000 genomes]
rs35713358	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3847662	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3847663	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3907482	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3920119	0.83[EUR][1000 genomes]
rs4093759	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4143650	0.88[EUR][1000 genomes]
rs4254103	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4265627	0.89[EUR][1000 genomes]
rs4347425	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4366523	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4406858	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4625509	0.81[AMR][1000 genomes]
rs4758855	0.82[AMR][1000 genomes]
rs4758858	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4758859	0.83[EUR][1000 genomes]
rs55661627	0.86[EUR][1000 genomes]
rs56240683	0.83[EUR][1000 genomes]
rs60691341	0.82[EUR][1000 genomes]
rs61487567	0.82[EUR][1000 genomes]
rs61923066	0.83[EUR][1000 genomes]
rs61923074	0.86[EUR][1000 genomes]
rs61923092	0.89[EUR][1000 genomes]
rs61923093	0.87[EUR][1000 genomes]
rs61923121	0.87[EUR][1000 genomes]
rs61923124	0.83[EUR][1000 genomes]
rs61923127	0.83[EUR][1000 genomes]
rs61923129	0.83[EUR][1000 genomes]
rs61923130	0.82[EUR][1000 genomes]
rs61923132	0.82[EUR][1000 genomes]
rs61923155	0.83[EUR][1000 genomes]
rs6581305	0.88[EUR][1000 genomes]
rs6581310	0.82[EUR][1000 genomes]
rs7131926	0.87[EUR][1000 genomes]
rs7134267	0.82[EUR][1000 genomes]
rs7134663	0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7135031	0.87[CHB][hapmap]
rs7136435	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7136994	0.80[EUR][1000 genomes]
rs7138854	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7295183	0.84[EUR][1000 genomes]
rs7297548	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7298315	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7300532	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7306226	0.81[EUR][1000 genomes]
rs7312225	0.90[EUR][1000 genomes]
rs7313364	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7952971	0.82[EUR][1000 genomes]
rs7953857	0.83[EUR][1000 genomes]
rs7957100	0.86[EUR][1000 genomes]
rs7957295	0.82[EUR][1000 genomes]
rs7960292	0.81[EUR][1000 genomes]
rs7960303	0.81[EUR][1000 genomes]
rs7960487	0.81[EUR][1000 genomes]
rs7961221	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7961816	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7967860	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7973156	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7977065	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs924836	0.82[EUR][1000 genomes]
rs958543	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs959645	0.85[EUR][1000 genomes]
rs9634280	0.83[EUR][1000 genomes]
rs9634281	0.83[EUR][1000 genomes]
rs9668893	0.80[EUR][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	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv2754064	chr12:60608389-60645117	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
rs12830074	KIAA1143	trans	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60599600-60645400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60625200-60632600	Weak transcription	K562	blood
3	chr12:60628200-60628800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:60628200-60628800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:60628400-60629400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:60628600-60628800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:60628600-60629200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:60628600-60629400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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