Variant report

Variant	rs4453315
Chromosome Location	chr12:41226487-41226488
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10879332	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10879333	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11178706	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11178982	0.86[JPT][hapmap]
rs1348227	0.83[ASN][1000 genomes]
rs17621741	0.86[JPT][hapmap]
rs2405508	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2405511	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2772460	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs312267	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs312268	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs312275	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs312277	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs312278	0.88[ASN][1000 genomes]
rs312279	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs312280	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs312281	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs312284	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768319	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs61913941	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488883	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7968835	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7970381	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][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	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41222800-41228000	Weak transcription	Fetal Brain Male	brain
2	chr12:41224000-41226600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:41224000-41228200	Weak transcription	Fetal Brain Female	brain
4	chr12:41225000-41226800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:41225200-41226800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:41225200-41226800	Enhancers	HMEC	breast
7	chr12:41225200-41226800	Enhancers	NHEK	skin
8	chr12:41225600-41226800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:41225800-41227200	Weak transcription	A549	lung
10	chr12:41226400-41226800	Enhancers	Fetal Heart	heart

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