Variant report

Variant	rs56872578
Chromosome Location	chr14:104408367-104408368
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	chr14:104393603..104396242-chr14:104407114..104410000,4	K562	blood:
2	chr14:104393603..104397064-chr14:104407702..104410726,3	K562	blood:

Variant related genes	Relation type
ENSG00000156411	Chromatin interaction
ENSG00000156414	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10129730	0.88[AMR][1000 genomes]
rs10130042	1.00[ASN][1000 genomes]
rs10131031	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10131231	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10137517	0.82[ASN][1000 genomes]
rs10137676	1.00[ASN][1000 genomes]
rs10137889	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10139210	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10140436	0.89[ASN][1000 genomes]
rs10141374	1.00[ASN][1000 genomes]
rs10142365	0.88[AMR][1000 genomes]
rs10142956	1.00[ASN][1000 genomes]
rs10149898	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10151165	1.00[ASN][1000 genomes]
rs12436665	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2295662	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2368996	0.89[ASN][1000 genomes]
rs28416628	1.00[ASN][1000 genomes]
rs28439019	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28514602	1.00[ASN][1000 genomes]
rs28555097	1.00[ASN][1000 genomes]
rs28563863	0.88[AMR][1000 genomes]
rs28593161	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28715405	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4900606	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4906388	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4906393	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4906394	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4906400	1.00[ASN][1000 genomes]
rs4906403	1.00[ASN][1000 genomes]
rs4906407	0.89[ASN][1000 genomes]
rs4906412	1.00[ASN][1000 genomes]
rs4906414	1.00[ASN][1000 genomes]
rs55746000	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55866217	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56050561	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56279366	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58128911	0.89[ASN][1000 genomes]
rs58220415	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59838226	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7150795	1.00[ASN][1000 genomes]
rs74086761	0.88[AMR][1000 genomes]
rs74086783	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74086977	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8004485	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8007491	1.00[ASN][1000 genomes]
rs8020110	0.86[AMR][1000 genomes]
rs9324070	1.00[ASN][1000 genomes]
rs9671924	1.00[ASN][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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104402600-104408400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr14:104407200-104409200	Active TSS	Right Atrium	heart
3	chr14:104407400-104408400	Weak transcription	K562	blood
4	chr14:104407400-104408800	Active TSS	Left Ventricle	heart
5	chr14:104407800-104409000	Active TSS	Fetal Heart	heart
6	chr14:104408000-104409000	Active TSS	Right Ventricle	heart

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