Variant report

Variant	rs59361983
Chromosome Location	chr3:136455956-136455957
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136453394..136456450-chr3:136469548..136472199,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MSL2-6	chr3:136455342-136456071	NONHSAT092281

Variant related genes	Relation type
ENSG00000261758	Chromatin interaction
ENSG00000118007	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1048145	0.82[EUR][1000 genomes]
rs10513016	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16844056	0.87[EUR][1000 genomes]
rs17301365	0.82[EUR][1000 genomes]
rs17365351	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17466223	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55763637	0.83[EUR][1000 genomes]
rs56308712	0.90[EUR][1000 genomes]
rs56888009	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57466072	0.89[EUR][1000 genomes]
rs57681357	0.83[EUR][1000 genomes]
rs59616231	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59696368	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66470158	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66471262	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66637228	0.89[EUR][1000 genomes]
rs66739346	0.89[EUR][1000 genomes]
rs66902780	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67231188	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67236827	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67546863	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67888773	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67923745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68018658	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6805814	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975363	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228025	0.82[EUR][1000 genomes]
rs73228037	0.84[EUR][1000 genomes]
rs73228040	0.84[EUR][1000 genomes]
rs73230052	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73230065	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230077	0.94[EUR][1000 genomes]
rs73230078	0.94[EUR][1000 genomes]
rs73230095	0.93[EUR][1000 genomes]
rs73231917	0.90[EUR][1000 genomes]
rs73231937	0.87[EUR][1000 genomes]
rs73231953	0.82[EUR][1000 genomes]
rs73231958	0.81[EUR][1000 genomes]
rs73231966	0.82[EUR][1000 genomes]
rs73231974	0.82[EUR][1000 genomes]
rs73231975	0.82[EUR][1000 genomes]
rs7646563	0.89[EUR][1000 genomes]
rs7646723	0.89[EUR][1000 genomes]
rs923001	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv965214	chr3:136453872-136457900	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59361983	IL20RB	cis	Nerve Tibial	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136432400-136468200	Weak transcription	Aorta	Aorta
2	chr3:136433200-136462600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:136438000-136458000	Weak transcription	Esophagus	oesophagus
4	chr3:136438800-136461200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:136445400-136460000	Weak transcription	Gastric	stomach
6	chr3:136446400-136460000	Weak transcription	K562	blood
7	chr3:136448000-136460800	Weak transcription	Brain Germinal Matrix	brain
8	chr3:136448200-136459800	Weak transcription	Osteobl	bone
9	chr3:136448200-136460000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:136448200-136467600	Weak transcription	HSMM	muscle
11	chr3:136448200-136467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:136448200-136467800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:136448200-136467800	Weak transcription	HSMMtube	muscle
14	chr3:136448400-136459800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:136448600-136460200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:136448600-136462800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:136448600-136463800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:136448600-136467600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:136449000-136470000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:136449800-136462400	Weak transcription	Dnd41	blood
21	chr3:136450200-136461200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:136450400-136460000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:136450400-136467800	Weak transcription	Psoas Muscle	Psoas
24	chr3:136450600-136467800	Weak transcription	Primary B cells from cord blood	blood
25	chr3:136450800-136462800	Weak transcription	Thymus	Thymus
26	chr3:136450800-136467800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:136450800-136467800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr3:136450800-136467800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:136450800-136469000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr3:136451000-136467800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:136451400-136459600	Weak transcription	NHEK	skin
32	chr3:136451800-136457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:136453200-136466000	Weak transcription	Placenta	Placenta
34	chr3:136453600-136467800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:136453800-136459600	Weak transcription	A549	lung
36	chr3:136453800-136464000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:136453800-136467600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:136454000-136456000	Strong transcription	Fetal Muscle Leg	muscle
39	chr3:136454000-136457400	Strong transcription	Fetal Intestine Small	intestine
40	chr3:136454000-136459200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:136454200-136457200	Weak transcription	Pancreas	Pancrea
42	chr3:136454200-136462000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:136454200-136462400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:136454200-136462800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:136454200-136464200	Weak transcription	Right Atrium	heart
46	chr3:136454200-136464200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:136454200-136465400	Weak transcription	Adipose Nuclei	Adipose
48	chr3:136454200-136465400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr3:136454200-136467800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:136454200-136469200	Weak transcription	H9 Cell Line	embryonic stem cell

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