Variant report

Variant	rs17560267
Chromosome Location	chr12:40317536-40317537
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]
rs11564216	0.84[MEX][hapmap]
rs12423473	1.00[JPT][hapmap]
rs12423682	1.00[LWK][hapmap];0.88[AMR][1000 genomes]
rs12423983	0.87[AMR][1000 genomes]
rs12425167	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17559478	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17559800	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];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17560365	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1874558	0.88[AMR][1000 genomes]
rs2173134	1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs28370602	0.90[AMR][1000 genomes]
rs28370606	0.90[AMR][1000 genomes]
rs28740171	0.85[AMR][1000 genomes]
rs535458	1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs545385	0.90[AMR][1000 genomes]
rs549790	0.90[AMR][1000 genomes]
rs566044	0.80[AMR][1000 genomes]
rs953493	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]

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	esv2757500	chr12:40299913-40331853	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv2759895	chr12:40299913-40331853	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv2760268	chr12:40303505-40317643	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40311400-40317800	Weak transcription	Aorta	Aorta
2	chr12:40311600-40318600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:40313800-40317800	Enhancers	Liver	Liver
4	chr12:40315000-40319200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:40316200-40329400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:40316400-40317800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:40316400-40318400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:40316800-40317600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:40316800-40318800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:40317000-40317600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:40317200-40317600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr12:40317400-40325400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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