Variant report

Variant	rs312271
Chromosome Location	chr12:41248743-41248744
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10506177	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10784898	0.86[ASN][1000 genomes]
rs10784901	0.82[ASN][1000 genomes]
rs10879294	0.81[ASN][1000 genomes]
rs10879339	0.83[ASN][1000 genomes]
rs10879340	0.83[ASN][1000 genomes]
rs11178829	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11178838	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11178839	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11178848	0.81[ASN][1000 genomes]
rs11178884	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11178887	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11178935	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11178962	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11178967	0.82[ASN][1000 genomes]
rs12317351	0.84[ASN][1000 genomes]
rs12368083	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12371725	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1579194	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17543645	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17544096	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1822598	0.82[ASN][1000 genomes]
rs1822599	0.86[ASN][1000 genomes]
rs184321	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1854481	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1928561	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2583991	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583992	0.86[ASN][1000 genomes]
rs2772461	0.90[ASN][1000 genomes]
rs2772478	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2772479	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs312270	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312274	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs312276	0.86[ASN][1000 genomes]
rs312283	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768312	0.90[ASN][1000 genomes]
rs4768316	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768317	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66578805	0.81[ASN][1000 genomes]
rs7300719	0.86[ASN][1000 genomes]
rs73118764	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73120761	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73124566	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7967262	0.82[ASN][1000 genomes]
rs913831	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41226800-41266400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:41247400-41249000	Enhancers	Fetal Brain Male	brain
3	chr12:41248200-41248800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:41248200-41249000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:41248200-41249000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:41248400-41248800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:41248400-41248800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:41248400-41248800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:41248400-41249000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:41248400-41249000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:41248600-41248800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr12:41248600-41248800	Enhancers	Brain Cingulate Gyrus	brain
13	chr12:41248600-41249000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:41248600-41249000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:41248600-41249000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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