Variant report

Variant	rs12425905
Chromosome Location	chr12:42103161-42103162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1020534	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10431602	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10431603	0.83[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10506205	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880113	0.80[EUR][1000 genomes]
rs10880114	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880115	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880119	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880120	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880125	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880127	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880152	0.84[AFR][1000 genomes]
rs11181079	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181094	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181095	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181102	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181121	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181124	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181125	0.88[ASN][1000 genomes]
rs12424962	0.91[ASN][1000 genomes]
rs12425224	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17593985	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs285568	0.86[JPT][hapmap]
rs285569	0.85[JPT][hapmap]
rs287013	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35306460	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73284165	0.80[EUR][1000 genomes]
rs7956041	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv832386	chr12:42017259-42189476	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv558701	chr12:42038171-42105409	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv899043	chr12:42058138-42313665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42101800-42104000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr12:42101800-42104200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr12:42101800-42104200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:42101800-42104800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:42102000-42103200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:42102000-42103600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:42102000-42104200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:42102200-42103600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:42102200-42103800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:42102600-42103800	Enhancers	Brain Germinal Matrix	brain
11	chr12:42102600-42104200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:42102600-42104200	Enhancers	Fetal Lung	lung
13	chr12:42102800-42103200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:42102800-42103200	Flanking Active TSS	A549	lung
15	chr12:42102800-42103600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:42102800-42104000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr12:42102800-42104000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:42102800-42104400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:42103000-42103400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:42103000-42103800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:42103000-42104000	Weak transcription	Fetal Kidney	kidney
22	chr12:42103000-42118800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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