Variant report

Variant	rs12375307
Chromosome Location	chr8:50145997-50145998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10097641	0.81[EUR][1000 genomes]
rs1031926	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10808757	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12541915	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12546213	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547293	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674878	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679153	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13253465	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13258781	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13261261	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263971	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13272410	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1480385	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1480386	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16906121	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16906585	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16906613	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2222291	0.81[CEU][hapmap]
rs2662897	0.80[ASN][1000 genomes]
rs2726705	0.82[ASN][1000 genomes]
rs2726710	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs34086229	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34527186	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34893562	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35141848	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35575648	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4506233	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873341	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55987135	0.80[ASN][1000 genomes]
rs61692105	0.87[AFR][1000 genomes]
rs6472291	0.80[EUR][1000 genomes]
rs6981407	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997263	0.85[AFR][1000 genomes]
rs7007288	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7015183	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7817650	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9792189	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9792221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs985986	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1034908	chr8:50023423-50416049	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv539601	chr8:50023423-50416049	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1024410	chr8:50037085-50511501	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv428517	chr8:50094920-50232993	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv890855	chr8:50109365-50252962	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv890856	chr8:50133485-50272497	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890857	chr8:50133485-50469764	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12375307	DNASE2B	trans	cerebellum	SCAN
rs12375307	FEZ1	trans	lymphoblastoid	seeQTL
rs12375307	SNTG1	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50139200-50159400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:50143600-50146000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:50144000-50146400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:50144800-50147000	Enhancers	HSMMtube	muscle
5	chr8:50145000-50146800	Enhancers	K562	blood
6	chr8:50145200-50147000	Enhancers	HSMM	muscle
7	chr8:50145200-50147200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:50145600-50146400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:50145600-50146400	Enhancers	NH-A	brain
10	chr8:50145600-50147200	Enhancers	Hela-S3	cervix
11	chr8:50145800-50146200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:50145800-50147200	Enhancers	HUES64 Cell Line	embryonic stem cell

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