Variant report

Variant	rs60721042
Chromosome Location	chr12:30775281-30775282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11050996	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11050997	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11051000	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16906601	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16906606	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16906611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57735299	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60712960	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7970293	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30780800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:30767000-30784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:30767000-30785600	Weak transcription	Pancreas	Pancrea
4	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:30767600-30780800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:30767600-30780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:30770600-30775600	Weak transcription	Primary T cells from cord blood	blood
8	chr12:30770600-30783400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:30770800-30783200	Weak transcription	Fetal Stomach	stomach
10	chr12:30771000-30781600	Weak transcription	Fetal Brain Female	brain
11	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
12	chr12:30771200-30804200	Weak transcription	Fetal Brain Male	brain
13	chr12:30771400-30781200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:30771400-30783000	Weak transcription	Brain Germinal Matrix	brain
15	chr12:30771400-30783000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:30771400-30783000	Weak transcription	HSMMtube	muscle
17	chr12:30772800-30777000	Weak transcription	Lung	lung
18	chr12:30772800-30783400	Weak transcription	A549	lung
19	chr12:30774000-30780800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:30774200-30781200	Weak transcription	Brain Substantia Nigra	brain
21	chr12:30774400-30780800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:30774600-30812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:30775000-30775800	Enhancers	HepG2	liver
24	chr12:30775000-30781200	Weak transcription	Primary B cells from cord blood	blood
25	chr12:30775000-30781200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:30775000-30781600	Weak transcription	HUVEC	blood vessel
27	chr12:30775200-30776200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:30775200-30780600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:30775200-30783400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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