Variant report

Variant	rs12371119
Chromosome Location	chr12:40322045-40322046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10506138	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1086490	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs10877779	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10877837	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11174266	0.86[ASN][1000 genomes]
rs11174285	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11174292	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11174293	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11174370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174427	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174532	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11174533	0.89[EUR][1000 genomes]
rs11514248	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11564133	1.00[JPT][hapmap]
rs11564139	1.00[JPT][hapmap]
rs11564160	1.00[JPT][hapmap]
rs11564221	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11564223	1.00[JPT][hapmap]
rs11564282	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs12312535	1.00[JPT][hapmap]
rs12810368	1.00[JPT][hapmap]
rs12827948	1.00[JPT][hapmap]
rs1482282	1.00[JPT][hapmap]
rs17442304	1.00[JPT][hapmap]
rs17442469	1.00[JPT][hapmap]
rs17483628	1.00[JPT][hapmap]
rs17559478	1.00[JPT][hapmap]
rs2046929	1.00[JPT][hapmap]
rs28370607	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs28370611	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28370644	1.00[JPT][hapmap]
rs28370656	1.00[JPT][hapmap]
rs28370659	1.00[JPT][hapmap]
rs4128689	1.00[CHB][hapmap]
rs4399379	1.00[JPT][hapmap]
rs74089317	0.86[ASN][1000 genomes]
rs7969495	1.00[JPT][hapmap]
rs992851	0.80[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv2757500	chr12:40299913-40331853	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv2759895	chr12:40299913-40331853	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40316200-40329400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40317400-40325400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:40317800-40329200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:40321800-40323600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:40322000-40322800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:40322000-40323000	Enhancers	Brain Germinal Matrix	brain
7	chr12:40322000-40323000	Enhancers	Fetal Brain Male	brain
8	chr12:40322000-40323000	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links