Variant report

Variant	rs2292827
Chromosome Location	chr12:83527465-83527466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83525944..83528624-chr12:83539787..83542327,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10732679	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10735463	0.87[EUR][1000 genomes]
rs1517817	0.84[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517821	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1517822	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1543170	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1543171	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1949427	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056218	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2292823	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3168365	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4882547	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7311514	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	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	nsv559559	chr12:83505512-83765069	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83516000-83533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:83516400-83538800	Weak transcription	Fetal Brain Male	brain
3	chr12:83516600-83532600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:83516600-83533400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:83516800-83528600	Weak transcription	Adipose Nuclei	Adipose
6	chr12:83517200-83528000	Weak transcription	Brain Angular Gyrus	brain
7	chr12:83517200-83528800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:83522200-83533800	Weak transcription	Brain Germinal Matrix	brain
9	chr12:83522400-83532200	Weak transcription	Brain Substantia Nigra	brain
10	chr12:83522600-83533200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:83524400-83530400	Weak transcription	Left Ventricle	heart
12	chr12:83524400-83533800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:83524600-83533600	Weak transcription	Esophagus	oesophagus
14	chr12:83524800-83527800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:83525000-83527800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:83525000-83529600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:83525000-83529800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:83525200-83527800	Weak transcription	Fetal Intestine Large	intestine
19	chr12:83525200-83536600	Weak transcription	Fetal Heart	heart
20	chr12:83525800-83527800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:83525800-83529200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr12:83526000-83530200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:83526400-83527800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:83526400-83530200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:83526400-83530200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:83526400-83533200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:83526600-83528400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:83526600-83530400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:83526600-83530800	Weak transcription	Brain Anterior Caudate	brain
30	chr12:83526600-83533000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:83526600-83537600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:83526800-83530000	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:83526800-83533600	Weak transcription	Fetal Stomach	stomach
34	chr12:83527000-83528600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:83527000-83528800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:83527000-83539200	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:83527200-83528800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:83527200-83533200	Weak transcription	Fetal Lung	lung
39	chr12:83527400-83529000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:83527400-83533400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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