Variant report

Variant	rs67082054
Chromosome Location	chr3:136190961-136190962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs16843978	0.81[EUR][1000 genomes]
rs3931416	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55763637	0.86[EUR][1000 genomes]
rs55848312	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56083120	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56218376	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57681357	0.86[EUR][1000 genomes]
rs58636237	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58641485	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60014495	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60270684	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66470158	0.85[EUR][1000 genomes]
rs66494666	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66637842	0.82[EUR][1000 genomes]
rs66739346	0.81[EUR][1000 genomes]
rs66902780	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66973954	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67230667	0.96[EUR][1000 genomes]
rs67281610	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67303976	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67305360	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67621498	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67663578	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773495	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773604	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67794070	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67888773	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67902591	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67971203	0.83[EUR][1000 genomes]
rs73224201	0.93[EUR][1000 genomes]
rs73226130	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228025	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228037	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228040	0.85[EUR][1000 genomes]
rs7625592	0.83[EUR][1000 genomes]
rs7636806	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646563	0.81[EUR][1000 genomes]
rs7646723	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv877519	chr3:136035737-136279390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv877520	chr3:136056861-136310985	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv877521	chr3:136069286-136310985	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv877522	chr3:136088038-136241028	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv877523	chr3:136088038-136310985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv520012	chr3:136088038-136314119	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv877524	chr3:136112109-136295283	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv877525	chr3:136112109-136310985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv877526	chr3:136149139-136310985	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv877527	chr3:136182053-136310985	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67082054	IL20RB	cis	Artery Tibial	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136176400-136194200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:136176400-136194400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:136176400-136194400	Weak transcription	HSMM	muscle
4	chr3:136176400-136314200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:136176600-136195000	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:136176600-136195000	Weak transcription	Spleen	Spleen
7	chr3:136176600-136196600	Weak transcription	HUVEC	blood vessel
8	chr3:136176600-136212000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:136176600-136222800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:136176600-136224200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:136176600-136224400	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:136176600-136231800	Weak transcription	Psoas Muscle	Psoas
13	chr3:136176600-136240000	Weak transcription	HMEC	breast
14	chr3:136176600-136260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:136176800-136191600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:136176800-136193400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:136176800-136193400	Weak transcription	Esophagus	oesophagus
18	chr3:136176800-136193600	Weak transcription	Ovary	ovary
19	chr3:136176800-136194400	Weak transcription	Brain Anterior Caudate	brain
20	chr3:136176800-136194400	Weak transcription	Brain Germinal Matrix	brain
21	chr3:136176800-136194800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:136176800-136205800	Weak transcription	Small Intestine	intestine
23	chr3:136176800-136228000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:136176800-136266200	Weak transcription	Hela-S3	cervix
25	chr3:136177000-136191800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:136177200-136236400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:136177400-136191600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr3:136177400-136198400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:136177600-136193400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:136177800-136191600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:136178000-136194600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:136178000-136212000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:136178400-136193400	Weak transcription	Fetal Brain Female	brain
34	chr3:136178400-136208200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:136178600-136192200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:136178600-136194400	Weak transcription	Brain Angular Gyrus	brain
37	chr3:136178600-136220200	Weak transcription	Fetal Brain Male	brain
38	chr3:136179000-136192400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:136179400-136204000	Weak transcription	Fetal Intestine Small	intestine
40	chr3:136179800-136212000	Weak transcription	Fetal Heart	heart
41	chr3:136181200-136205400	Weak transcription	Fetal Kidney	kidney
42	chr3:136181400-136191600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:136181400-136211600	Weak transcription	A549	lung
44	chr3:136181800-136196000	Weak transcription	K562	blood
45	chr3:136182000-136204400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:136182200-136193200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:136183600-136195000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:136183800-136191200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr3:136183800-136191400	Weak transcription	Fetal Muscle Leg	muscle
50	chr3:136183800-136191600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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