Variant report

Variant	rs7104378
Chromosome Location	chr11:66216675-66216676
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	chr11:66205228..66207941-chr11:66215279..66217830,2	MCF-7	breast:
2	chr11:66215751..66217886-chr11:66244738..66246507,2	K562	blood:

Variant related genes	Relation type
ENSG00000174547	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10501397	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10896124	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10896125	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10896129	0.84[EUR][1000 genomes]
rs11227495	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227497	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227498	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227499	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227500	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227501	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227502	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227503	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227509	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227510	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227511	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227512	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227514	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227515	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227523	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227525	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227527	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11227534	0.84[EUR][1000 genomes]
rs11550299	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11821155	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11822028	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11822099	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11824771	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12099041	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12221821	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12272545	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17065	0.87[EUR][1000 genomes]
rs17147644	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17495838	0.95[EUR][1000 genomes]
rs17496250	0.87[EUR][1000 genomes]
rs17496586	0.82[EUR][1000 genomes]
rs17580784	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2075792	0.84[EUR][1000 genomes]
rs2276406	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2277302	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2279864	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2279865	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2298806	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2305532	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2305533	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2305534	0.84[EUR][1000 genomes]
rs2305535	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28414721	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3179961	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35733139	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3737525	0.85[EUR][1000 genomes]
rs3741360	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3816492	0.87[EUR][1000 genomes]
rs3819247	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3825065	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3867131	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3892818	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4542420	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4576	0.84[EUR][1000 genomes]
rs4630309	0.84[EUR][1000 genomes]
rs4930182	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930183	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930377	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4930378	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930379	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930380	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56144989	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57045447	0.84[EUR][1000 genomes]
rs57207756	0.85[EUR][1000 genomes]
rs57288351	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57596493	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57634456	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57691879	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57724777	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59829960	0.84[EUR][1000 genomes]
rs59982644	0.85[EUR][1000 genomes]
rs60358007	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60645853	0.85[EUR][1000 genomes]
rs61561111	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61582507	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7116921	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7116940	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7123176	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7928882	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7939759	0.84[EUR][1000 genomes]
rs7943327	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7950407	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7950790	0.86[EUR][1000 genomes];0.87[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	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	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
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	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
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv897786	chr11:66203025-66244015	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7104378	CTD-3074O7.5	cis	Whole Blood	GTEx
rs7104378	DPP3	cis	Thyroid	GTEx
rs7104378	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs7104378	CTD-3074O7.5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66211200-66218400	Weak transcription	Aorta	Aorta
2	chr11:66215400-66218800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:66215800-66216800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr11:66216400-66216800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:66216600-66218400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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