Variant report

Variant	rs74084200
Chromosome Location	chr12:47184918-47184919
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56369362	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7138295	1.00[AMR][1000 genomes]
rs74084202	1.00[AMR][1000 genomes]
rs74086106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086108	1.00[AMR][1000 genomes]
rs74086110	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086118	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv826361	chr12:47159545-47200894	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47164200-47187800	Genic enhancers	Liver	Liver
2	chr12:47165200-47187200	Weak transcription	Fetal Kidney	kidney
3	chr12:47169400-47185200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:47179000-47189800	Weak transcription	Fetal Lung	lung
5	chr12:47181000-47194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:47181400-47185400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:47181800-47185600	Weak transcription	Pancreas	Pancrea
8	chr12:47182400-47187200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:47182400-47187400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:47182400-47194200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:47182600-47188600	Weak transcription	HepG2	liver
12	chr12:47183000-47185400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:47183400-47185200	Weak transcription	HSMM	muscle
14	chr12:47183400-47187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:47184400-47185000	Enhancers	GM12878-XiMat	blood
16	chr12:47184600-47185400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:47184800-47186200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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