Variant report

Variant	rs12153778
Chromosome Location	chr5:115678628-115678629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10035646	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10036292	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10040345	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10042278	1.00[CEU][hapmap]
rs10043228	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10051240	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10054248	0.98[EUR][1000 genomes]
rs10073364	1.00[EUR][1000 genomes]
rs10079089	0.91[EUR][1000 genomes]
rs10079394	1.00[EUR][1000 genomes]
rs10155600	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10478281	1.00[CEU][hapmap]
rs10519448	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs10519454	0.82[CEU][hapmap]
rs10519455	0.82[CEU][hapmap]
rs12152964	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12153338	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153717	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs12332489	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12332585	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12332658	0.96[EUR][1000 genomes]
rs12514110	0.83[ASN][1000 genomes]
rs12515251	1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515466	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12519989	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12520568	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12520613	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12520632	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12521440	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521612	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12522027	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12522441	1.00[CEU][hapmap]
rs12523347	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs13362043	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1382339	0.96[EUR][1000 genomes]
rs1422500	0.96[EUR][1000 genomes]
rs1592917	0.96[EUR][1000 genomes]
rs17139192	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17139193	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17139224	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs17139265	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17139314	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17139457	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068456	0.82[CEU][hapmap]
rs2136208	1.00[CEU][hapmap]
rs4398671	0.96[EUR][1000 genomes]
rs62384237	0.96[EUR][1000 genomes]
rs62384238	0.96[EUR][1000 genomes]
rs62384250	0.91[EUR][1000 genomes]
rs62384253	0.91[EUR][1000 genomes]
rs62384461	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62384468	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62384469	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384471	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384476	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62384477	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62384491	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385975	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62385980	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62385993	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6876972	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880880	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7727882	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12153778	COMMD10	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115649000-115692800	Weak transcription	Fetal Heart	heart
2	chr5:115666800-115683600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:115670800-115679600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:115670800-115679600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:115672200-115683400	Weak transcription	Primary B cells from cord blood	blood
6	chr5:115675800-115679200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:115677000-115679000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:115677800-115682200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:115678000-115683200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:115678400-115684000	Weak transcription	Primary hematopoietic stem cells	blood

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