Variant report

Variant	rs12230558
Chromosome Location	chr12:40342080-40342081
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10877742	0.81[JPT][hapmap]
rs10877767	0.81[JPT][hapmap]
rs10877823	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs10877832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877836	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877837	0.89[YRI][hapmap]
rs10877840	0.85[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11174281	0.81[JPT][hapmap]
rs11174315	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174535	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11559994	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs11564285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132747	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs28370600	1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370692	0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs28370709	0.87[AFR][1000 genomes]
rs28740190	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs61931461	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136390	0.99[ASN][1000 genomes]
rs7297783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7305863	0.85[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7312341	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7316296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7959014	0.81[JPT][hapmap]
rs7960023	0.91[ASN][1000 genomes]
rs7966222	0.83[JPT][hapmap]
rs7970063	0.81[JPT][hapmap]
rs7973509	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7974169	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7976837	0.83[JPT][hapmap]
rs7977137	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40334000-40343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:40334200-40343600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:40337400-40350600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:40338000-40366000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:40338600-40346600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:40340600-40342200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:40340600-40342200	Weak transcription	Ovary	ovary
8	chr12:40340800-40342400	Weak transcription	Fetal Intestine Large	intestine
9	chr12:40340800-40346400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:40341000-40347600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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