Variant report

Variant	rs4417318
Chromosome Location	chr12:60620713-60620714
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60618343..60621126-chr12:60626105..60627669,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10506408	0.86[ASN][1000 genomes]
rs11173327	0.83[ASN][1000 genomes]
rs11173328	0.85[ASN][1000 genomes]
rs11173329	0.87[ASN][1000 genomes]
rs11173336	0.85[ASN][1000 genomes]
rs11173337	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11173339	0.85[ASN][1000 genomes]
rs11173340	0.85[ASN][1000 genomes]
rs11173341	0.85[ASN][1000 genomes]
rs11173343	0.86[ASN][1000 genomes]
rs11173345	0.86[ASN][1000 genomes]
rs11173346	0.86[ASN][1000 genomes]
rs11173351	0.91[ASN][1000 genomes]
rs11173359	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11173361	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11173367	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11173386	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11173396	0.87[ASN][1000 genomes]
rs1125188	0.87[ASN][1000 genomes]
rs12226976	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12227514	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12228823	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12230599	0.90[ASN][1000 genomes]
rs12230817	0.85[ASN][1000 genomes]
rs12231312	0.86[ASN][1000 genomes]
rs12231943	0.91[ASN][1000 genomes]
rs1319775	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1493325	0.85[ASN][1000 genomes]
rs1504442	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1504443	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17595010	0.85[ASN][1000 genomes]
rs17595325	0.86[ASN][1000 genomes]
rs17595367	0.86[ASN][1000 genomes]
rs17602381	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17665306	0.86[ASN][1000 genomes]
rs3901470	0.87[ASN][1000 genomes]
rs4143650	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4265627	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4454757	0.86[ASN][1000 genomes]
rs4491264	0.86[ASN][1000 genomes]
rs4567505	0.86[ASN][1000 genomes]
rs4758743	0.85[ASN][1000 genomes]
rs4758744	0.87[ASN][1000 genomes]
rs4758745	0.88[ASN][1000 genomes]
rs4758859	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs55661627	0.94[ASN][1000 genomes]
rs61487567	0.91[ASN][1000 genomes]
rs61922947	0.80[ASN][1000 genomes]
rs61922949	0.80[ASN][1000 genomes]
rs61922950	0.80[ASN][1000 genomes]
rs61923065	0.86[ASN][1000 genomes]
rs61923066	0.86[ASN][1000 genomes]
rs61923067	0.87[ASN][1000 genomes]
rs61923074	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61923092	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61923093	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61923121	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs61923124	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs61923127	0.92[ASN][1000 genomes]
rs61923129	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs61923130	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs61923132	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs61923156	0.90[ASN][1000 genomes]
rs61923157	0.90[ASN][1000 genomes]
rs61925366	0.85[ASN][1000 genomes]
rs61925560	0.87[ASN][1000 genomes]
rs6581305	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs66587505	0.85[ASN][1000 genomes]
rs7131926	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7134267	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7136835	0.86[ASN][1000 genomes]
rs72648145	0.85[ASN][1000 genomes]
rs7310323	0.81[ASN][1000 genomes]
rs7314355	0.81[ASN][1000 genomes]
rs7957100	0.92[ASN][1000 genomes]
rs7973882	0.87[ASN][1000 genomes]
rs7979069	0.81[ASN][1000 genomes]
rs905722	0.87[ASN][1000 genomes]
rs924835	0.87[ASN][1000 genomes]
rs959645	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9634280	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9634281	0.92[ASN][1000 genomes]
rs9668893	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2754064	chr12:60608389-60645117	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60599600-60645400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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