Variant report

Variant	rs10506883
Chromosome Location	chr12:83223357-83223358
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10732678	1.00[AMR][1000 genomes]
rs10746256	1.00[AMR][1000 genomes]
rs10862499	1.00[AMR][1000 genomes]
rs17010020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17010029	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs17041817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2470367	1.00[AMR][1000 genomes]
rs2470368	1.00[AMR][1000 genomes]
rs2470887	1.00[AMR][1000 genomes]
rs2470888	1.00[AMR][1000 genomes]
rs4242868	1.00[AMR][1000 genomes]
rs4882525	1.00[AMR][1000 genomes]
rs56722406	1.00[AMR][1000 genomes]
rs56834199	1.00[AMR][1000 genomes]
rs57366330	1.00[AMR][1000 genomes]
rs57850546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61361946	1.00[AMR][1000 genomes]
rs6539686	1.00[AMR][1000 genomes]
rs7297682	1.00[AMR][1000 genomes]
rs7307597	1.00[AMR][1000 genomes]
rs73356400	1.00[AMR][1000 genomes]
rs73358226	1.00[AMR][1000 genomes]
rs73358227	1.00[AMR][1000 genomes]
rs73358228	1.00[AMR][1000 genomes]
rs73358233	1.00[AMR][1000 genomes]
rs73358237	1.00[AMR][1000 genomes]
rs73358239	1.00[AMR][1000 genomes]
rs73358240	1.00[AMR][1000 genomes]
rs73358241	1.00[AMR][1000 genomes]
rs73358242	1.00[AMR][1000 genomes]
rs73358245	1.00[AMR][1000 genomes]
rs73358248	1.00[AMR][1000 genomes]
rs73358250	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv2755991	chr12:83105631-83248605	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2754173	chr12:83125000-83245838	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv2756046	chr12:83166956-83245838	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv2755875	chr12:83166956-83248605	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv430520	chr12:83166956-83271602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	esv2752707	chr12:83168113-83245838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	esv2753376	chr12:83168113-83245838	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv2754178	chr12:83168113-83245838	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	nsv559552	chr12:83168616-83225174	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83196400-83250800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:83206600-83250000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:83206600-83255200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:83210400-83223600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:83211800-83225600	Weak transcription	Fetal Kidney	kidney
6	chr12:83211800-83229000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:83212400-83257000	Weak transcription	Gastric	stomach
8	chr12:83212600-83229000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:83214200-83250800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:83216800-83240000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:83219400-83226800	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:83219800-83225800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:83219800-83226800	Weak transcription	Brain Angular Gyrus	brain
14	chr12:83220200-83225000	Weak transcription	Brain Substantia Nigra	brain
15	chr12:83220200-83228200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:83221200-83223600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:83221200-83226800	Weak transcription	Fetal Lung	lung
18	chr12:83221400-83223400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:83221800-83226600	Weak transcription	Fetal Stomach	stomach
20	chr12:83223000-83224000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:83223000-83224600	Weak transcription	Monocytes-CD14+_RO01746	blood

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