Variant report

Variant	rs56068993
Chromosome Location	chr18:44302567-44302568
allele	A/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	CTCF	chr18:44302520-44302670	WERI-Rb-1	eye:	n/a	n/a

Variant related genes	Relation type
ENSG00000240983	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11872317	1.00[ASN][1000 genomes]
rs11872376	1.00[ASN][1000 genomes]
rs11872476	1.00[ASN][1000 genomes]
rs11873793	1.00[ASN][1000 genomes]
rs11874218	1.00[ASN][1000 genomes]
rs11874300	1.00[ASN][1000 genomes]
rs11875032	1.00[ASN][1000 genomes]
rs11875527	1.00[ASN][1000 genomes]
rs11875918	1.00[ASN][1000 genomes]
rs11876752	1.00[ASN][1000 genomes]
rs11877429	1.00[ASN][1000 genomes]
rs11877540	1.00[ASN][1000 genomes]
rs11878114	1.00[ASN][1000 genomes]
rs11878135	1.00[ASN][1000 genomes]
rs36129965	1.00[ASN][1000 genomes]
rs3893054	1.00[ASN][1000 genomes]
rs55752024	1.00[ASN][1000 genomes]
rs56030315	1.00[ASN][1000 genomes]
rs56202233	1.00[ASN][1000 genomes]
rs7229231	1.00[ASN][1000 genomes]
rs72903376	1.00[ASN][1000 genomes]
rs72903390	1.00[ASN][1000 genomes]
rs72903401	1.00[ASN][1000 genomes]
rs72905209	1.00[ASN][1000 genomes]
rs72905249	1.00[ASN][1000 genomes]
rs72905251	1.00[ASN][1000 genomes]
rs72905265	1.00[ASN][1000 genomes]
rs72905274	1.00[ASN][1000 genomes]
rs72905289	1.00[ASN][1000 genomes]
rs72905292	1.00[ASN][1000 genomes]
rs72907114	1.00[ASN][1000 genomes]
rs72907118	1.00[ASN][1000 genomes]
rs72907130	1.00[ASN][1000 genomes]
rs72907134	1.00[ASN][1000 genomes]
rs72907154	1.00[ASN][1000 genomes]
rs72907155	1.00[ASN][1000 genomes]
rs72907196	1.00[ASN][1000 genomes]
rs72909171	1.00[ASN][1000 genomes]
rs72909189	1.00[ASN][1000 genomes]
rs72909195	1.00[ASN][1000 genomes]
rs72909201	1.00[ASN][1000 genomes]
rs72911111	1.00[ASN][1000 genomes]
rs72911118	1.00[ASN][1000 genomes]
rs72913063	1.00[ASN][1000 genomes]
rs72915084	1.00[ASN][1000 genomes]
rs72917125	1.00[ASN][1000 genomes]
rs72917151	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909589	chr18:44279892-44330604	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv909590	chr18:44279892-44332911	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv909596	chr18:44291419-44330604	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv909597	chr18:44291419-44385150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv909598	chr18:44291419-44422661	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv909599	chr18:44294722-44385150	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv909600	chr18:44294722-44396246	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv909601	chr18:44294722-44400621	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv909602	chr18:44294722-44422661	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv909603	chr18:44300281-44335724	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv909604	chr18:44300281-44370518	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr18:44299400-44309800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr18:44299600-44315800	Weak transcription	Brain Angular Gyrus	brain
3	chr18:44300400-44309800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr18:44301800-44312400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:44302000-44303400	Enhancers	Brain Germinal Matrix	brain
6	chr18:44302400-44304000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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