Variant report

Variant	rs953493
Chromosome Location	chr12:40286102-40286103
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:18)

rs_ID	r²[population]
rs11174115	0.82[MEX][hapmap]
rs11174631	0.90[MEX][hapmap]
rs11564216	0.95[MEX][hapmap]
rs12423473	1.00[JPT][hapmap]
rs12423682	1.00[LWK][hapmap];0.90[MEX][hapmap]
rs12424971	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12425167	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12427424	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17559478	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17559800	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[ASN][1000 genomes]
rs17560267	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs2173134	1.00[JPT][hapmap]
rs535458	1.00[JPT][hapmap];0.90[MEX][hapmap]
rs545385	0.90[MEX][hapmap]
rs549790	0.90[MEX][hapmap]
rs67987793	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73276518	0.90[EUR][1000 genomes]
rs73276523	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899025	chr12:40191778-40321846	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1049214	chr12:40197549-40326495	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv899026	chr12:40279428-40302581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv558593	chr12:40279428-40317017	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv522471	chr12:40284666-40288790	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40285000-40289000	Enhancers	Liver	Liver
2	chr12:40285400-40286400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:40285800-40286200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:40285800-40286200	Enhancers	Colon Smooth Muscle	Colon
5	chr12:40285800-40286200	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr12:40285800-40286400	Enhancers	Adipose Nuclei	Adipose
7	chr12:40285800-40286600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:40286000-40286200	Enhancers	Gastric	stomach
9	chr12:40286000-40286200	Enhancers	Pancreas	Pancrea
10	chr12:40286000-40286400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:40286000-40286400	Enhancers	Fetal Muscle Leg	muscle
12	chr12:40286000-40286400	Enhancers	Osteobl	bone

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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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