Variant report

Variant	rs11116484
Chromosome Location	chr12:84990846-84990847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11116429	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11116431	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11116434	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11116435	0.82[AMR][1000 genomes]
rs11116473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11116487	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12228157	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12229454	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012289	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972407	0.94[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899369	chr12:84536107-85067814	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1035863	chr12:84710250-85331290	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1035236	chr12:84790507-85350433	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv899373	chr12:84891803-84999922	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv832475	chr12:84980822-85188763	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv899374	chr12:84988116-85041274	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84990000-84991000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:84990000-84991200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:84990200-84991000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:84990200-84991400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:84990400-84993200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:84990600-84991200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:84990600-84995600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:84990800-84992800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:84990800-84993000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:84990800-84993200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:84990800-84993200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:84990800-84993200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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

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