Variant report

Variant	rs3893054
Chromosome Location	chr18:44332115-44332116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

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[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11874267	1.00[CHB][hapmap]
rs11874300	1.00[ASN][1000 genomes]
rs11874423	1.00[CHB][hapmap]
rs11874582	1.00[CHB][hapmap]
rs11874634	1.00[CHB][hapmap]
rs11875032	1.00[ASN][1000 genomes]
rs11875527	1.00[ASN][1000 genomes]
rs11875703	1.00[CHB][hapmap]
rs11875918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11876274	1.00[CHB][hapmap]
rs11876752	1.00[ASN][1000 genomes]
rs11877373	1.00[CHB][hapmap]
rs11877429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11877540	1.00[ASN][1000 genomes]
rs11877721	1.00[CHB][hapmap]
rs11878114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11878135	1.00[ASN][1000 genomes]
rs36129965	1.00[ASN][1000 genomes]
rs55752024	1.00[ASN][1000 genomes]
rs56030315	1.00[ASN][1000 genomes]
rs56068993	1.00[ASN][1000 genomes]
rs56202233	1.00[ASN][1000 genomes]
rs56333835	1.00[ASN][1000 genomes]
rs56400973	1.00[ASN][1000 genomes]
rs7229231	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7236403	1.00[CHB][hapmap]
rs7238877	1.00[CHB][hapmap]
rs7240843	1.00[CHB][hapmap]
rs7240909	1.00[CHB][hapmap]
rs7241858	1.00[CHB][hapmap]
rs7243309	1.00[CHB][hapmap]
rs72903376	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903390	0.83[EUR][1000 genomes];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]
rs72919213	1.00[ASN][1000 genomes]
rs72919298	1.00[ASN][1000 genomes]
rs8088346	1.00[CHB][hapmap]
rs8092148	1.00[CHB][hapmap]
rs8094449	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv909605	chr18:44316719-44422661	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
18	nsv909606	chr18:44318548-44422661	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
19	nsv909607	chr18:44320836-44422661	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44329600-44334400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr18:44330800-44334200	Weak transcription	Brain Angular Gyrus	brain
3	chr18:44331800-44332400	Active TSS	Brain Germinal Matrix	brain
4	chr18:44332000-44332200	Bivalent Enhancer	HMEC	breast
5	chr18:44332000-44332600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:44332000-44332800	Bivalent Enhancer	NHEK	skin
7	chr18:44332000-44333000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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