Variant report

Variant	rs186053
Chromosome Location	chr4:69599438-69599439
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1454254	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2219112	0.81[AFR][1000 genomes]
rs28762191	0.87[AFR][1000 genomes]
rs293408	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs293409	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs293445	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs293467	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4148263	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62299487	0.81[ASN][1000 genomes]
rs6854768	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71615082	0.80[AFR][1000 genomes]
rs72846825	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757061	chr4:69178920-69631668	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
2	nsv870075	chr4:69218674-69608683	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv2763366	chr4:69592847-69661427	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1013885	chr4:69592847-69667996	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv829961	chr4:69592847-69695467	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3404582	chr4:69595963-69600161	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv594579	chr4:69597175-69665970	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69590800-69601000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:69596200-69599800	Enhancers	HepG2	liver
3	chr4:69596600-69600800	Weak transcription	Pancreas	Pancrea
4	chr4:69598000-69599600	Weak transcription	Fetal Intestine Large	intestine
5	chr4:69598600-69599600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:69599000-69599800	Enhancers	Fetal Kidney	kidney
7	chr4:69599000-69600000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:69599000-69600000	Active TSS	Duodenum Mucosa	Duodenum
9	chr4:69599000-69600200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:69599000-69600200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr4:69599000-69600600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr4:69599000-69601000	Enhancers	A549	lung
13	chr4:69599000-69603000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:69599200-69599600	Flanking Active TSS	Liver	Liver
15	chr4:69599200-69600000	Weak transcription	Fetal Intestine Small	intestine
16	chr4:69599200-69602800	Enhancers	Stomach Mucosa	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
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