Variant report

Variant	rs4482114
Chromosome Location	chr12:47217628-47217629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10161209	1.00[JPT][hapmap];0.85[LWK][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10437941	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183619	0.81[CEU][hapmap]
rs12306007	0.82[YRI][hapmap]
rs12424453	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581848	0.84[YRI][hapmap]
rs17097332	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1860372	0.84[YRI][hapmap]
rs2079787	0.84[YRI][hapmap]
rs2465585	0.81[YRI][hapmap]
rs2715788	0.81[YRI][hapmap]
rs3862137	0.85[YRI][hapmap]
rs4447249	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73283958	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73283960	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47211600-47219400	Weak transcription	Psoas Muscle	Psoas
2	chr12:47216000-47219200	Enhancers	HepG2	liver
3	chr12:47216200-47218200	Weak transcription	HSMM	muscle
4	chr12:47216600-47219200	Weak transcription	HSMMtube	muscle
5	chr12:47216800-47217800	Enhancers	Liver	Liver
6	chr12:47217200-47217800	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr12:47217400-47220200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:47217600-47217800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:47217600-47219200	Enhancers	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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