Variant report

Variant	rs67231188
Chromosome Location	chr3:136384174-136384175
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136366127..136367827-chr3:136383868..136385669,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10513016	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844056	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17365351	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466223	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55763637	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56218376	0.83[AFR][1000 genomes]
rs56888009	0.94[EUR][1000 genomes]
rs57466072	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57681357	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58636237	0.83[EUR][1000 genomes]
rs59361983	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59616231	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59696368	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60014495	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs66470158	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66471262	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66637228	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66739346	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66902780	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66973954	0.88[AFR][1000 genomes]
rs67236827	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67281610	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67303976	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67305360	0.88[AFR][1000 genomes]
rs67546863	0.89[EUR][1000 genomes]
rs67621498	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs67663578	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6773495	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs67794070	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs67888773	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67902591	0.83[EUR][1000 genomes]
rs67923745	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs68018658	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975363	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73228025	0.90[EUR][1000 genomes]
rs73228037	0.93[EUR][1000 genomes]
rs73228040	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230052	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73230077	0.83[EUR][1000 genomes]
rs73230078	0.83[EUR][1000 genomes]
rs73230095	0.82[EUR][1000 genomes]
rs7636806	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7646563	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646723	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923001	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1008866	chr3:136364511-136427790	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv877529	chr3:136364511-136487559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67231188	IL20RB	cis	Nerve Tibial	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136357800-136387400	Weak transcription	Fetal Thymus	thymus
2	chr3:136365000-136396400	Weak transcription	Gastric	stomach
3	chr3:136368200-136385000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:136369000-136386800	Weak transcription	Lung	lung
5	chr3:136370600-136385400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:136374400-136387400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:136374400-136390000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:136374600-136384200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:136374600-136387400	Weak transcription	Primary T cells from cord blood	blood
10	chr3:136374600-136389400	Weak transcription	Fetal Intestine Small	intestine
11	chr3:136374800-136390000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:136375600-136390400	Weak transcription	Dnd41	blood
13	chr3:136376400-136387400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:136376600-136392200	Weak transcription	Placenta	Placenta
15	chr3:136376800-136390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:136377000-136386800	Weak transcription	Left Ventricle	heart
17	chr3:136377000-136387600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:136377000-136389400	Weak transcription	NHEK	skin
19	chr3:136377000-136390400	Weak transcription	Right Ventricle	heart
20	chr3:136378600-136386000	Weak transcription	NH-A	brain
21	chr3:136378600-136386000	Weak transcription	NHLF	lung
22	chr3:136378600-136390400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:136378600-136390400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:136378600-136391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr3:136378600-136393600	Weak transcription	Fetal Lung	lung
26	chr3:136378600-136394000	Weak transcription	Adipose Nuclei	Adipose
27	chr3:136378800-136390600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:136379200-136394000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:136379600-136391800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:136380800-136391600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:136381200-136384200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr3:136381600-136390400	Weak transcription	Spleen	Spleen
33	chr3:136381600-136392400	Weak transcription	Small Intestine	intestine
34	chr3:136381800-136386400	Weak transcription	Pancreas	Pancrea
35	chr3:136381800-136387400	Weak transcription	Primary B cells from cord blood	blood
36	chr3:136381800-136388800	Weak transcription	Fetal Stomach	stomach
37	chr3:136381800-136410800	Weak transcription	Psoas Muscle	Psoas
38	chr3:136382200-136384400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr3:136382600-136394200	Weak transcription	Fetal Heart	heart
40	chr3:136383000-136390400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:136383000-136393200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:136383200-136384200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr3:136383200-136384400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:136383400-136384200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:136383400-136384200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:136383400-136384200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:136383400-136384200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:136383400-136384200	Enhancers	Brain Anterior Caudate	brain
49	chr3:136383400-136384200	Enhancers	Brain Hippocampus Middle	brain
50	chr3:136383400-136384600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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