Variant report

Variant	rs57045447
Chromosome Location	chr11:66339683-66339684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66338015..66339949-chr11:66360318..66361914,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182791	Chromatin interaction
ENSG00000173992	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10501397	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896124	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896125	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11227495	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227497	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11227498	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227499	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227500	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227501	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227502	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227503	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227509	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227510	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227511	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227512	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227514	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227515	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227522	0.88[EUR][1000 genomes]
rs11227523	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227525	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227527	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227534	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11550299	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11821155	0.90[EUR][1000 genomes]
rs11822028	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11822099	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11824771	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12099041	0.90[EUR][1000 genomes]
rs12221821	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12223479	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12272545	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17065	0.97[EUR][1000 genomes]
rs17147644	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17496250	0.97[EUR][1000 genomes]
rs17496586	0.95[EUR][1000 genomes]
rs17580784	0.84[EUR][1000 genomes]
rs2075792	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276406	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2277302	0.90[EUR][1000 genomes]
rs2279864	0.90[EUR][1000 genomes]
rs2279865	0.84[EUR][1000 genomes]
rs2298806	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305532	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305533	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305534	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2305535	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28414721	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3179961	0.89[EUR][1000 genomes]
rs35733139	0.87[EUR][1000 genomes]
rs3737525	0.98[EUR][1000 genomes]
rs3741360	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3816492	0.97[EUR][1000 genomes]
rs3819247	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3825065	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3892818	0.90[EUR][1000 genomes]
rs4542420	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4576	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4630309	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930182	0.84[EUR][1000 genomes]
rs4930183	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4930377	0.89[EUR][1000 genomes]
rs4930378	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4930379	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4930380	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56144989	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57207756	0.95[EUR][1000 genomes]
rs57288351	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57596493	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57634456	0.93[EUR][1000 genomes]
rs57691879	0.90[EUR][1000 genomes]
rs57724777	0.90[EUR][1000 genomes]
rs59829960	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59982644	0.98[EUR][1000 genomes]
rs60358007	0.87[EUR][1000 genomes]
rs60645853	0.98[EUR][1000 genomes]
rs61561111	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61582507	0.86[EUR][1000 genomes]
rs7104378	0.84[EUR][1000 genomes]
rs7116921	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7116940	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7123176	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7928882	0.87[EUR][1000 genomes]
rs7939759	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7943327	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7950407	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7950790	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897788	chr11:66319262-66347850	Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57045447	CCS	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66336400-66346600	Weak transcription	Right Atrium	heart
2	chr11:66337000-66346600	Weak transcription	K562	blood
3	chr11:66338400-66350600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:66338800-66339800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:66338800-66340200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:66338800-66341600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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