Variant report

Variant	rs183120
Chromosome Location	chr3:136702704-136702705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs108858	0.87[ASN][1000 genomes]
rs11711599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12054220	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13095034	0.87[ASN][1000 genomes]
rs1385306	0.82[ASN][1000 genomes]
rs1620455	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1654900	0.82[ASN][1000 genomes]
rs1654901	0.82[ASN][1000 genomes]
rs1654924	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1682339	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1682361	0.82[ASN][1000 genomes]
rs1682362	0.82[ASN][1000 genomes]
rs1682363	0.82[ASN][1000 genomes]
rs1682364	0.82[ASN][1000 genomes]
rs1682365	0.82[ASN][1000 genomes]
rs1682366	0.82[ASN][1000 genomes]
rs171519	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181732	0.82[ASN][1000 genomes]
rs183121	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2117008	0.83[ASN][1000 genomes]
rs2344092	0.84[ASN][1000 genomes]
rs361227	0.82[ASN][1000 genomes]
rs361228	0.82[ASN][1000 genomes]
rs361229	0.82[ASN][1000 genomes]
rs361232	0.84[ASN][1000 genomes]
rs361233	0.87[ASN][1000 genomes]
rs361234	0.85[ASN][1000 genomes]
rs361235	0.87[ASN][1000 genomes]
rs361238	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361249	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781515	0.82[ASN][1000 genomes]
rs71620537	0.87[ASN][1000 genomes]
rs835627	0.82[ASN][1000 genomes]
rs835629	0.82[ASN][1000 genomes]
rs835630	0.82[ASN][1000 genomes]
rs835631	0.82[ASN][1000 genomes]
rs835638	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs835652	0.87[ASN][1000 genomes]
rs9681468	0.81[ASN][1000 genomes]
rs9845076	0.90[ASN][1000 genomes]
rs9850024	0.82[ASN][1000 genomes]
rs9854795	0.82[ASN][1000 genomes]
rs9874615	0.82[ASN][1000 genomes]
rs9875855	0.87[ASN][1000 genomes]
rs999038	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877534	chr3:136676303-136765859	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv524856	chr3:136693459-137190765	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1012111	chr3:136695367-137343430	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs183120	IL20RB	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136695400-136703600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:136695400-136706200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:136698400-136703600	Weak transcription	Pancreas	Pancrea
4	chr3:136698800-136703600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:136698800-136703600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:136699000-136703200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:136699000-136703400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:136699800-136705400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:136700200-136703200	Weak transcription	Placenta	Placenta
10	chr3:136700400-136703600	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:136700600-136703400	Weak transcription	Left Ventricle	heart
12	chr3:136701000-136704800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:136701200-136703600	Weak transcription	Right Ventricle	heart
14	chr3:136701400-136703600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:136701600-136703000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:136701600-136703000	Weak transcription	HMEC	breast
17	chr3:136701600-136703200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:136701600-136703600	Genic enhancers	NHEK	skin
19	chr3:136701600-136705200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:136701800-136703200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:136702000-136703000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:136702000-136703200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:136702000-136705600	Enhancers	Fetal Thymus	thymus
24	chr3:136702200-136702800	Strong transcription	Esophagus	oesophagus
25	chr3:136702200-136703800	Enhancers	Lung	lung
26	chr3:136702200-136703800	Enhancers	HSMMtube	muscle
27	chr3:136702200-136705600	Enhancers	Thymus	Thymus
28	chr3:136702400-136702800	Weak transcription	Hela-S3	cervix

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