Variant report

Variant	rs1390605
Chromosome Location	chr12:87864103-87864104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10735256	0.88[EUR][1000 genomes]
rs10735258	0.88[EUR][1000 genomes]
rs10735261	1.00[EUR][1000 genomes]
rs10735262	1.00[EUR][1000 genomes]
rs10735264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10745442	0.88[EUR][1000 genomes]
rs10745444	1.00[EUR][1000 genomes]
rs10745446	0.87[EUR][1000 genomes]
rs10745448	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10745449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10777032	0.88[EUR][1000 genomes]
rs10777034	0.88[EUR][1000 genomes]
rs10777040	0.81[EUR][1000 genomes]
rs10777042	0.88[EUR][1000 genomes]
rs10777043	1.00[EUR][1000 genomes]
rs10777048	1.00[EUR][1000 genomes]
rs10858592	0.88[EUR][1000 genomes]
rs10858598	0.88[EUR][1000 genomes]
rs10858599	0.98[EUR][1000 genomes]
rs11104443	0.88[EUR][1000 genomes]
rs11104470	1.00[EUR][1000 genomes]
rs1353484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1353486	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1353487	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1353488	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1390604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1496320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1496321	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2047306	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406753	0.88[EUR][1000 genomes]
rs2897518	0.88[EUR][1000 genomes]
rs4147490	0.88[EUR][1000 genomes]
rs4254148	0.88[EUR][1000 genomes]
rs4258454	0.98[EUR][1000 genomes]
rs4269999	0.88[EUR][1000 genomes]
rs4300469	0.88[EUR][1000 genomes]
rs4303307	1.00[EUR][1000 genomes]
rs4310691	1.00[EUR][1000 genomes]
rs4319586	1.00[EUR][1000 genomes]
rs4326883	0.88[EUR][1000 genomes]
rs4338623	0.88[EUR][1000 genomes]
rs4372533	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4402386	0.88[EUR][1000 genomes]
rs4442619	1.00[EUR][1000 genomes]
rs4466916	0.85[EUR][1000 genomes]
rs4561282	0.88[EUR][1000 genomes]
rs4564410	0.88[EUR][1000 genomes]
rs4573770	0.83[EUR][1000 genomes]
rs4576908	1.00[EUR][1000 genomes]
rs4590963	1.00[EUR][1000 genomes]
rs4597138	0.88[EUR][1000 genomes]
rs4635161	1.00[EUR][1000 genomes]
rs4842462	1.00[EUR][1000 genomes]
rs4842570	0.88[EUR][1000 genomes]
rs4842576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5005936	0.88[EUR][1000 genomes]
rs6538078	0.88[EUR][1000 genomes]
rs6538079	0.88[EUR][1000 genomes]
rs6538082	0.88[EUR][1000 genomes]
rs6538083	0.88[EUR][1000 genomes]
rs6538087	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs6538088	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs6538104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6538105	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6538106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7305305	0.88[EUR][1000 genomes]
rs7310810	0.88[EUR][1000 genomes]
rs7311170	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7959041	1.00[EUR][1000 genomes]
rs7962840	0.88[EUR][1000 genomes]
rs7967687	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7969510	1.00[EUR][1000 genomes]
rs7969564	0.87[EUR][1000 genomes]
rs7969855	1.00[EUR][1000 genomes]
rs7970729	0.88[EUR][1000 genomes]
rs7970832	0.88[EUR][1000 genomes]
rs7974679	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430523	chr12:87757132-87865832	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv430525	chr12:87757132-87905532	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv559701	chr12:87801947-87905878	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87849400-87867600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:87863600-87864200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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