Variant report

Variant	rs7940980
Chromosome Location	chr11:66172910-66172911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66172793-66174377	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66171206..66173547-chr11:66174703..66176452,2	MCF-7	breast:
2	chr11:66170818..66173214-chr11:66183976..66185743,2	MCF-7	breast:
3	chr11:66172542..66173262-chr11:66197172..66197682,2	K562	blood:
4	chr11:66172327..66174230-chr11:66177314..66179940,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254510	TF binding region
ENSG00000254510	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1039594	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1047029	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10750784	0.87[EUR][1000 genomes]
rs10791869	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10791872	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10791874	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10791876	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896111	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10896112	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10896115	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896116	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227465	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11601396	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12416747	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12576299	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12577196	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12785321	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12785651	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12786563	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12794121	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1546358	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1785633	0.82[EUR][1000 genomes]
rs1892940	0.86[EUR][1000 genomes]
rs2236679	0.83[EUR][1000 genomes]
rs2279861	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2279862	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2282530	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3016767	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3177514	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34043951	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4244813	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4930177	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930178	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4930179	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930181	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930360	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4930362	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930363	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930366	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930368	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55998145	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56123976	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56321771	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61891449	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6591213	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6591215	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6591217	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66810040	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7104253	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7104570	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7105015	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7105401	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7107191	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7110944	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7117630	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7126018	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73489638	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7938676	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7939111	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs905770	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs947978	0.82[EUR][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7940980	RIN1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66165600-66173400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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