Variant report

Variant	rs12302310
Chromosome Location	chr12:86728284-86728285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11830448	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11835193	1.00[EUR][1000 genomes]
rs12302551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303046	0.85[AMR][1000 genomes]
rs12319410	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12319593	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12581912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013858	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17013981	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17014026	1.00[EUR][1000 genomes]
rs1986602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986603	0.97[ASN][1000 genomes]
rs2405929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405931	0.85[AMR][1000 genomes]
rs2897274	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897275	0.85[AMR][1000 genomes]
rs4526834	0.85[AMR][1000 genomes]
rs4636736	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56170210	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57002922	0.85[AMR][1000 genomes]
rs57977247	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58054764	1.00[EUR][1000 genomes]
rs59690693	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60555693	0.85[AMR][1000 genomes]
rs60902071	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61014498	0.85[AMR][1000 genomes]
rs61359740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61571841	1.00[EUR][1000 genomes]
rs61950714	0.91[ASN][1000 genomes]
rs7138352	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138786	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73385292	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73385293	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73387865	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953491	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7961251	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053087	chr12:86569126-86733418	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541564	chr12:86569126-86733418	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1037003	chr12:86610040-86798121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1045386	chr12:86616015-86733418	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv541565	chr12:86616015-86733418	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1845250	chr12:86696771-86730126	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1053234	chr12:86701070-86774957	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv2754127	chr12:86723232-87576932	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86726400-86728400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:86726400-86729600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:86728000-86728400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:86728000-86728400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:86728000-86730200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:86728200-86728400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:86728200-86728400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:86728200-86728600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:86728200-86729200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:86728200-86729400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:86728200-86730400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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