Variant report

Variant	rs59110659
Chromosome Location	chr12:44432263-44432264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11182381	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56040109	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56189744	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58729113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087638	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087652	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087657	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087678	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087690	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087697	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087699	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73089709	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089749	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089758	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091731	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73091734	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs74084623	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74087905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS 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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
2	chr12:44422200-44437800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:44423200-44434200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:44423400-44447000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:44429000-44446800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44430200-44440400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:44430400-44439600	Weak transcription	Fetal Intestine Large	intestine
8	chr12:44430800-44432400	Enhancers	Pancreas	Pancrea
9	chr12:44430800-44432600	Strong transcription	Fetal Intestine Small	intestine
10	chr12:44431000-44437200	Weak transcription	Fetal Stomach	stomach
11	chr12:44431400-44446400	Weak transcription	Gastric	stomach
12	chr12:44431600-44432600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:44431800-44436600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:44432000-44432400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr12:44432000-44432400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr12:44432000-44436800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:44432200-44432400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:44432200-44432400	Enhancers	Aorta	Aorta
19	chr12:44432200-44432400	Enhancers	Left Ventricle	heart
20	chr12:44432200-44437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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