Variant report

Variant	rs12334948
Chromosome Location	chr8:78564275-78564276
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10087157	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090012	1.00[ASN][1000 genomes]
rs10090643	0.99[ASN][1000 genomes]
rs10103850	0.97[ASN][1000 genomes]
rs10103975	0.97[ASN][1000 genomes]
rs10105170	1.00[ASN][1000 genomes]
rs10111403	0.96[ASN][1000 genomes]
rs1039856	1.00[ASN][1000 genomes]
rs1039857	1.00[ASN][1000 genomes]
rs1039858	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1116418	0.85[EUR][1000 genomes]
rs11986712	0.99[ASN][1000 genomes]
rs12334946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676452	0.99[ASN][1000 genomes]
rs12680616	0.99[ASN][1000 genomes]
rs1397103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510116	0.99[ASN][1000 genomes]
rs1510117	0.99[ASN][1000 genomes]
rs1510122	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510123	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510124	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1519351	0.85[EUR][1000 genomes]
rs1519352	0.85[EUR][1000 genomes]
rs1519361	0.87[ASN][1000 genomes]
rs1567426	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1567427	0.99[ASN][1000 genomes]
rs1567428	0.99[ASN][1000 genomes]
rs17382111	0.99[ASN][1000 genomes]
rs17382125	0.99[ASN][1000 genomes]
rs17382153	0.99[ASN][1000 genomes]
rs17382466	0.99[ASN][1000 genomes]
rs17383009	1.00[ASN][1000 genomes]
rs17466971	0.99[ASN][1000 genomes]
rs17467349	1.00[ASN][1000 genomes]
rs2063336	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063337	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136642	1.00[ASN][1000 genomes]
rs2175233	1.00[ASN][1000 genomes]
rs2221742	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2339071	1.00[ASN][1000 genomes]
rs34860047	0.99[ASN][1000 genomes]
rs366101	0.91[ASN][1000 genomes]
rs367237	0.91[ASN][1000 genomes]
rs3920192	0.99[ASN][1000 genomes]
rs428631	0.91[ASN][1000 genomes]
rs444044	0.91[ASN][1000 genomes]
rs475495	0.91[ASN][1000 genomes]
rs6998256	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998776	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003266	1.00[ASN][1000 genomes]
rs7005485	0.88[EUR][1000 genomes]
rs7006306	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016106	0.99[ASN][1000 genomes]
rs7016172	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016476	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs906994	0.99[ASN][1000 genomes]
rs906995	0.99[ASN][1000 genomes]
rs906996	0.99[ASN][1000 genomes]
rs9298303	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9298304	0.92[ASN][1000 genomes]
rs9785092	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891049	chr8:78325885-78565529	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1033669	chr8:78414508-78704839	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1016506	chr8:78414508-78750343	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv539650	chr8:78414508-78750343	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1033074	chr8:78489781-78614082	Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2752462	chr8:78492584-78669157	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1027584	chr8:78539823-78806136	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1021008	chr8:78540652-78902770	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv539651	chr8:78540652-78902770	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78563200-78567800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:78564000-78564400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:78564000-78565000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:78564000-78565000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:78564000-78566200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:78564200-78565000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links