Variant report

Variant	rs28558085
Chromosome Location	chr4:119146458-119146459
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	chr4:119144587..119146570-chr4:119146792..119149619,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10002349	1.00[AMR][1000 genomes]
rs10003652	1.00[AMR][1000 genomes]
rs10005659	1.00[AMR][1000 genomes]
rs10007553	1.00[AMR][1000 genomes]
rs10018706	1.00[AMR][1000 genomes]
rs10024548	1.00[AMR][1000 genomes]
rs10025029	1.00[AMR][1000 genomes]
rs10025515	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10028823	1.00[AMR][1000 genomes]
rs10030057	1.00[AMR][1000 genomes]
rs10031402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10032705	0.86[AFR][1000 genomes]
rs11931409	1.00[AMR][1000 genomes]
rs13434557	1.00[AMR][1000 genomes]
rs28421210	0.86[AFR][1000 genomes]
rs28421577	1.00[AMR][1000 genomes]
rs28451256	1.00[AMR][1000 genomes]
rs28484271	1.00[AMR][1000 genomes]
rs28567841	1.00[AMR][1000 genomes]
rs28576396	1.00[AMR][1000 genomes]
rs28579325	0.86[AFR][1000 genomes]
rs28582030	1.00[AMR][1000 genomes]
rs28585079	1.00[AMR][1000 genomes]
rs28610040	1.00[AMR][1000 genomes]
rs28619162	1.00[AMR][1000 genomes]
rs28630407	1.00[AFR][1000 genomes]
rs28634343	1.00[AMR][1000 genomes]
rs28665169	1.00[AMR][1000 genomes]
rs28667620	1.00[AMR][1000 genomes]
rs28669076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682376	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28706008	1.00[AMR][1000 genomes]
rs28715892	1.00[AMR][1000 genomes]
rs28735538	1.00[AMR][1000 genomes]
rs28740899	1.00[AMR][1000 genomes]
rs28771156	1.00[AMR][1000 genomes]
rs28776305	1.00[AMR][1000 genomes]
rs28823876	1.00[AMR][1000 genomes]
rs28847022	0.86[AFR][1000 genomes]
rs28847597	1.00[AMR][1000 genomes]
rs28886020	1.00[AMR][1000 genomes]
rs57461354	1.00[AMR][1000 genomes]
rs9307456	1.00[AMR][1000 genomes]
rs9994181	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1008236	chr4:118989467-119154024	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr4:119145400-119147000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr4:119145400-119147200	Enhancers	Fetal Intestine Large	intestine
3	chr4:119145600-119146800	Enhancers	Fetal Intestine Small	intestine
4	chr4:119145600-119146800	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr4:119146200-119148600	Strong transcription	Dnd41	blood
6	chr4:119146400-119147400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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