Variant report

Variant	rs2287473
Chromosome Location	chr12:47174021-47174022
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17097220	0.81[AMR][1000 genomes]
rs17097286	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs17097341	1.00[CEU][hapmap]
rs17097368	0.81[JPT][hapmap]
rs180424	0.83[CHB][hapmap];0.81[AMR][1000 genomes]
rs180425	0.83[CHB][hapmap];0.81[AMR][1000 genomes]
rs2075335	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109125	1.00[CEU][hapmap]
rs2302855	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs2429465	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs2429466	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs2429467	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs2429471	0.87[JPT][hapmap]
rs2465586	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs2897981	1.00[CEU][hapmap]
rs7313706	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	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
5	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:16 , 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	chr12:47165600-47182000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:47168400-47177600	Weak transcription	NHLF	lung
5	chr12:47168400-47180800	Weak transcription	Pancreas	Pancrea
6	chr12:47169000-47177600	Weak transcription	HSMMtube	muscle
7	chr12:47169200-47175600	Strong transcription	HSMM	muscle
8	chr12:47169400-47180000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:47169400-47182200	Weak transcription	Psoas Muscle	Psoas
10	chr12:47169400-47185200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:47171800-47174600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr12:47172000-47174200	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr12:47172800-47175600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr12:47173600-47174200	Enhancers	HepG2	liver
15	chr12:47173600-47174400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr12:47173800-47177400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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