Variant report

Variant	rs1187446
Chromosome Location	chr14:104409896-104409897
allele	A/G
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	JUN	chr14:104409877-104410542	K562	blood:	n/a	chr14:104410178-104410189

No.	Distal block	Cell Line	Cell type
1	chr14:104393603..104396242-chr14:104407114..104410000,4	K562	blood:
2	chr14:104403769..104405537-chr14:104408994..104411713,3	MCF-7	breast:
3	chr14:104408709..104411499-chr14:104426104..104427639,2	MCF-7	breast:
4	chr14:104403831..104408776-chr14:104408810..104412826,6	K562	blood:
5	chr14:104393603..104397064-chr14:104407702..104410726,3	K562	blood:

Variant related genes	Relation type
RD3L	TF binding region
ENSG00000156411	Chromatin interaction
ENSG00000156414	Chromatin interaction
ENSG00000227729	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10136440	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10149651	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11160774	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11622475	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11625697	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11626404	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11627297	0.82[EUR][1000 genomes]
rs1187448	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878767	0.82[EUR][1000 genomes]
rs12889168	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12895359	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12895592	0.88[AMR][1000 genomes]
rs17101911	0.84[AMR][1000 genomes]
rs1885072	0.84[AMR][1000 genomes]
rs2005081	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2236246	0.89[AMR][1000 genomes]
rs2236247	0.84[AMR][1000 genomes]
rs2269186	0.89[AMR][1000 genomes]
rs2273610	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2368984	0.82[AMR][1000 genomes]
rs34288430	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34964872	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56060232	0.85[AMR][1000 genomes]
rs56231040	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59776579	0.86[AMR][1000 genomes]
rs6576012	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7143682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143936	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs743212	0.84[AMR][1000 genomes]
rs8021692	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs941946	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers 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 miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv902324	chr14:104399640-104464809	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1187446	TDRD9	cis	lung	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104408400-104410200	Enhancers	K562	blood
2	chr14:104409000-104410600	Weak transcription	Left Ventricle	heart
3	chr14:104409000-104411600	Enhancers	Fetal Heart	heart
4	chr14:104409000-104414000	Weak transcription	Monocytes-CD14+_RO01746	blood

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