Variant report

Variant	rs4768060
Chromosome Location	chr12:44376725-44376726
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10748386	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10748388	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10748389	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231403	1.00[JPT][hapmap]
rs1881928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407789	0.88[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.90[ASN][1000 genomes]
rs2897765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323934	0.96[EUR][1000 genomes]
rs4474500	0.86[MEX][hapmap]
rs4768058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55996795	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57065008	0.83[EUR][1000 genomes]
rs57781916	0.87[EUR][1000 genomes]
rs6582493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7296132	0.90[ASN][1000 genomes]
rs7297277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298388	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs73085755	0.83[EUR][1000 genomes]
rs74084785	0.83[EUR][1000 genomes]
rs7979716	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44343600-44376800	Weak transcription	Pancreas	Pancrea
2	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
3	chr12:44363800-44382400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44364600-44393200	Weak transcription	Small Intestine	intestine
5	chr12:44364800-44377000	Weak transcription	Left Ventricle	heart
6	chr12:44374800-44377400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:44375600-44378600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:44375800-44377000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:44376000-44377200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr12:44376400-44377200	Enhancers	Adipose Nuclei	Adipose
11	chr12:44376400-44377200	Enhancers	Brain Substantia Nigra	brain
12	chr12:44376400-44377600	Weak transcription	HSMMtube	muscle
13	chr12:44376600-44377400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:44376600-44377400	Enhancers	Stomach Mucosa	stomach

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