Variant report

Variant	rs521270
Chromosome Location	chr11:104742034-104742035
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	RFX5	chr11:104741621-104742163	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:104741467-104742045	SK-N-MC	brain:	n/a	n/a
3	TCF12	chr11:104741562-104742120	SK-N-SH	brain:	n/a	chr11:104741875-104741882 chr11:104741873-104741883 chr11:104741877-104741884

Variant related genes	Relation type
ENSG00000254569	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs481322	1.00[ASN][1000 genomes]
rs482385	1.00[ASN][1000 genomes]
rs499423	1.00[ASN][1000 genomes]
rs501149	1.00[ASN][1000 genomes]
rs509965	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs517153	1.00[ASN][1000 genomes]
rs519907	1.00[ASN][1000 genomes]
rs520458	1.00[CHB][hapmap];0.82[YRI][hapmap]
rs521752	1.00[ASN][1000 genomes]
rs530398	1.00[ASN][1000 genomes]
rs531129	1.00[ASN][1000 genomes]
rs531439	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs535297	1.00[ASN][1000 genomes]
rs541774	1.00[ASN][1000 genomes]
rs550051	1.00[ASN][1000 genomes]
rs552761	1.00[ASN][1000 genomes]
rs556062	1.00[ASN][1000 genomes]
rs569468	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs605555	1.00[AMR][1000 genomes]
rs619515	1.00[ASN][1000 genomes]
rs626354	1.00[ASN][1000 genomes]
rs657708	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv826072	chr11:104662708-104768357	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv2757474	chr11:104719593-104798545	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759862	chr11:104719593-104798545	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv8869	chr11:104724605-104760037	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3465886	chr11:104724810-104759731	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3465897	chr11:104724823-104759731	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3465908	chr11:104724823-104759731	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3693098	chr11:104728524-104759546	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104741200-104742200	Enhancers	Dnd41	blood
2	chr11:104741400-104742400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:104741600-104742200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:104742000-104746600	Weak transcription	Primary B cells from peripheral blood	blood

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