Variant report

Variant	rs12418547
Chromosome Location	chr11:57751001-57751002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10896664	0.84[ASN][1000 genomes]
rs11229185	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11570238	1.00[CHB][hapmap];0.81[MEX][hapmap]
rs12291403	0.96[ASN][1000 genomes]
rs12417244	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12417258	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12417892	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12419044	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12419348	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12419399	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12419513	0.87[ASN][1000 genomes]
rs12420912	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12575698	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1397277	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1868882	0.82[TSI][hapmap]
rs2513706	0.82[JPT][hapmap]
rs2514190	0.81[CHB][hapmap]
rs7120194	1.00[CHB][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.82[ASN][1000 genomes]
rs986053	0.90[ASN][1000 genomes]

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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv517822	chr11:57728993-57751001	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv328	chr11:57744748-57789940	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	2 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	chr11:57745400-57751200	Weak transcription	Left Ventricle	heart
2	chr11:57749400-57751400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:57749400-57752200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr11:57749800-57758800	Weak transcription	HepG2	liver
5	chr11:57750800-57751400	Enhancers	Fetal Muscle Leg	muscle
6	chr11:57750800-57751600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:57751000-57751400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:57751000-57751400	Enhancers	Adipose Nuclei	Adipose
9	chr11:57751000-57752200	Enhancers	Brain Germinal Matrix	brain

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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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