Variant report

Variant	rs73231944
Chromosome Location	chr3:136622008-136622009
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136621285..136624241-chr3:136629189..136631419,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1048145	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17301365	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17366890	1.00[ASN][1000 genomes]
rs35127615	0.83[AFR][1000 genomes]
rs56308712	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73230077	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73230078	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73230095	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73231917	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73231937	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73231943	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231953	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231958	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231966	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231974	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73231975	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	nsv877531	chr3:136517016-136662954	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv877532	chr3:136526939-136662603	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv877533	chr3:136539689-136662954	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73231944	IL20RB	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136592000-136622400	Weak transcription	Aorta	Aorta
2	chr3:136609400-136625200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:136613000-136622400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:136613200-136648800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:136613400-136625400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:136613400-136626200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:136613600-136625200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:136613600-136625200	Weak transcription	Ovary	ovary
9	chr3:136613600-136625200	Weak transcription	Pancreas	Pancrea
10	chr3:136613600-136626200	Weak transcription	HMEC	breast
11	chr3:136613600-136633600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:136613600-136638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:136614000-136625200	Weak transcription	Gastric	stomach
14	chr3:136614000-136625200	Weak transcription	Spleen	Spleen
15	chr3:136614600-136622200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:136617600-136623000	ZNF genes & repeats	GM12878-XiMat	blood
17	chr3:136618200-136625200	Weak transcription	Left Ventricle	heart
18	chr3:136618200-136625200	Weak transcription	Right Atrium	heart
19	chr3:136618600-136624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:136618600-136627200	Weak transcription	Small Intestine	intestine
21	chr3:136618800-136622600	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:136618800-136624200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:136619000-136623000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:136619200-136622200	Enhancers	Primary hematopoietic stem cells	blood
25	chr3:136619200-136622200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:136619200-136622200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:136619200-136625200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:136619200-136656800	Weak transcription	NHLF	lung
29	chr3:136619400-136624600	Weak transcription	Psoas Muscle	Psoas
30	chr3:136619800-136622400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:136620200-136622600	Enhancers	Primary B cells from peripheral blood	blood
32	chr3:136620200-136623000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr3:136620800-136625600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:136621000-136622200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:136621000-136622800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:136621000-136628000	Weak transcription	Hela-S3	cervix
37	chr3:136621200-136622200	Enhancers	Primary B cells from cord blood	blood
38	chr3:136621200-136622200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr3:136621400-136622200	Enhancers	Liver	Liver
40	chr3:136621400-136622400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:136621600-136622600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:136621600-136625600	Weak transcription	K562	blood
43	chr3:136621600-136625800	Weak transcription	HUVEC	blood vessel
44	chr3:136621800-136625400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:136622000-136622200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr3:136622000-136622600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr3:136622000-136623200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:136622000-136623800	ZNF genes & repeats	Dnd41	blood
49	chr3:136622000-136625200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr3:136622000-136625400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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