Variant report

Variant	rs73232000
Chromosome Location	chr3:136705231-136705232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136705210..136707039-chr3:136709265..136711240,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11715838	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55871480	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73231985	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73231988	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73231989	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73232000	IL20RB	cis	Artery Tibial	GTEx
rs73232000	IL20RB	cis	Nerve Tibial	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136695400-136706200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:136699800-136705400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:136702000-136705600	Enhancers	Fetal Thymus	thymus
4	chr3:136702200-136705600	Enhancers	Thymus	Thymus
5	chr3:136703800-136706400	Weak transcription	Esophagus	oesophagus
6	chr3:136703800-136706600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:136703800-136706600	Weak transcription	Lung	lung
8	chr3:136703800-136708400	Weak transcription	Colonic Mucosa	Colon
9	chr3:136703800-136708400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:136703800-136713600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:136703800-136732400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:136704000-136706400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:136704000-136708800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:136704000-136713200	Weak transcription	Right Atrium	heart
15	chr3:136704000-136713400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:136704000-136713400	Weak transcription	Pancreas	Pancrea
17	chr3:136704000-136714600	Weak transcription	Right Ventricle	heart
18	chr3:136704000-136730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:136704200-136708400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:136704200-136713200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:136704200-136713200	Weak transcription	Small Intestine	intestine
22	chr3:136704400-136707400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:136704400-136713400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:136704600-136705600	Genic enhancers	Hela-S3	cervix
25	chr3:136704600-136705600	Genic enhancers	NHEK	skin
26	chr3:136704600-136708400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:136704600-136713600	Weak transcription	HSMM	muscle
28	chr3:136704800-136707200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:136704800-136731000	Weak transcription	HSMMtube	muscle
30	chr3:136705000-136708000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:136705200-136705600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:136705200-136705600	Strong transcription	HMEC	breast

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