Variant report

Variant	rs12424191
Chromosome Location	chr12:105668160-105668161
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	chr12:105630089..105632839-chr12:105665320..105668612,3	MCF-7	breast:
2	chr12:105666902..105668565-chr12:105668821..105670480,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10083185	0.89[EUR][1000 genomes]
rs10161513	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10861369	0.87[CEU][hapmap]
rs11112381	0.89[EUR][1000 genomes]
rs11112389	0.88[EUR][1000 genomes]
rs11112410	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112452	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112522	1.00[ASN][1000 genomes]
rs11112526	1.00[ASN][1000 genomes]
rs11112530	1.00[ASN][1000 genomes]
rs11112531	1.00[ASN][1000 genomes]
rs11112532	1.00[ASN][1000 genomes]
rs11559871	0.96[EUR][1000 genomes]
rs11829598	0.89[EUR][1000 genomes]
rs12299366	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299391	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301914	0.91[ASW][hapmap];0.87[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304384	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305766	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307372	0.87[EUR][1000 genomes]
rs12308444	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12311156	0.87[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312965	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs12317637	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317804	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321199	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321518	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321534	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12424095	1.00[ASN][1000 genomes]
rs12424709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	0.89[EUR][1000 genomes]
rs17037098	1.00[ASN][1000 genomes]
rs56284118	0.89[EUR][1000 genomes]
rs56862143	0.89[EUR][1000 genomes]
rs58780154	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59320697	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59593474	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60835294	0.89[EUR][1000 genomes]
rs60999193	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132816	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133728	0.87[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136270	1.00[ASN][1000 genomes]
rs7136306	1.00[ASN][1000 genomes]
rs7136453	0.89[EUR][1000 genomes]
rs7138574	0.87[EUR][1000 genomes]
rs7300130	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302842	0.87[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306679	1.00[ASN][1000 genomes]
rs7313309	0.89[EUR][1000 genomes]
rs7315964	0.89[EUR][1000 genomes]
rs73179990	0.89[EUR][1000 genomes]
rs73179996	0.89[EUR][1000 genomes]
rs73179998	0.89[EUR][1000 genomes]
rs73180001	0.89[EUR][1000 genomes]
rs73181810	1.00[ASN][1000 genomes]
rs73181818	1.00[ASN][1000 genomes]
rs73181822	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181825	1.00[ASN][1000 genomes]
rs73181843	1.00[ASN][1000 genomes]
rs73181852	1.00[ASN][1000 genomes]
rs73181856	1.00[ASN][1000 genomes]
rs73181857	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181860	0.84[AMR][1000 genomes]
rs73181869	1.00[ASN][1000 genomes]
rs7964184	0.89[EUR][1000 genomes]
rs7971630	0.87[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975115	1.00[ASN][1000 genomes]
rs7975787	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs7978034	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9971795	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12424191	KIAA1033	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105659600-105672200	Weak transcription	Aorta	Aorta
2	chr12:105661800-105668400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:105664600-105672200	Weak transcription	HSMM	muscle
4	chr12:105665000-105674200	Weak transcription	Osteobl	bone
5	chr12:105665600-105674800	Weak transcription	NHDF-Ad	bronchial
6	chr12:105666400-105668200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:105667600-105670000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:105667800-105668400	Weak transcription	Esophagus	oesophagus
9	chr12:105667800-105670000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:105667800-105670000	Weak transcription	NHEK	skin
11	chr12:105667800-105670200	Weak transcription	HMEC	breast
12	chr12:105668000-105669800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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