Variant report

Variant	rs11115528
Chromosome Location	chr12:83415584-83415585
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10862547	0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862571	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11115531	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11115551	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11115552	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11115553	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11115555	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12300941	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12306176	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12312967	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12319533	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12320751	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320976	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58587249	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60254601	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7308597	0.84[ASN][1000 genomes]
rs74106041	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	nsv1047239	chr12:83362299-83444855	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83404400-83417200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:83404400-83420800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:83404400-83422000	Weak transcription	Esophagus	oesophagus
4	chr12:83405000-83436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:83409800-83417200	Weak transcription	Pancreas	Pancrea
6	chr12:83410600-83421800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:83411000-83421000	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:83411000-83435800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:83411200-83418400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:83411200-83422800	Weak transcription	Brain Anterior Caudate	brain
11	chr12:83411400-83423200	Weak transcription	Stomach Mucosa	stomach
12	chr12:83412200-83421200	Weak transcription	Brain Substantia Nigra	brain
13	chr12:83412400-83416400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:83412400-83417200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:83412600-83424400	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:83412800-83417200	Weak transcription	Fetal Heart	heart
17	chr12:83412800-83422800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:83413400-83417200	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:83413400-83417200	Weak transcription	Fetal Stomach	stomach
20	chr12:83413600-83421200	Weak transcription	Fetal Lung	lung
21	chr12:83415200-83417600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:83415200-83424600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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