Variant report

Variant	rs7625592
Chromosome Location	chr3:136116532-136116533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10513002	0.87[EUR][1000 genomes]
rs13067714	0.87[EUR][1000 genomes]
rs16843879	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16843978	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17199880	0.87[EUR][1000 genomes]
rs17199978	0.87[EUR][1000 genomes]
rs17265675	0.87[EUR][1000 genomes]
rs17266364	0.91[EUR][1000 genomes]
rs3913715	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4125861	0.87[EUR][1000 genomes]
rs55848312	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56057807	0.87[EUR][1000 genomes]
rs56095774	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56218376	0.82[EUR][1000 genomes]
rs56264828	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56336182	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58636237	0.83[EUR][1000 genomes]
rs58641485	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60014495	0.85[EUR][1000 genomes]
rs60270684	0.85[EUR][1000 genomes]
rs66494666	0.85[EUR][1000 genomes]
rs66637842	0.80[AMR][1000 genomes]
rs66973954	0.82[EUR][1000 genomes]
rs67082054	0.83[EUR][1000 genomes]
rs67230667	0.85[EUR][1000 genomes]
rs67281610	0.82[EUR][1000 genomes]
rs67303976	0.82[EUR][1000 genomes]
rs67305360	0.82[EUR][1000 genomes]
rs67389407	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67452583	0.85[EUR][1000 genomes]
rs67525027	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67621498	0.85[EUR][1000 genomes]
rs67663578	0.85[EUR][1000 genomes]
rs67677899	0.87[EUR][1000 genomes]
rs6769582	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6773495	0.82[EUR][1000 genomes]
rs6773604	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67794070	0.85[EUR][1000 genomes]
rs67902591	0.83[EUR][1000 genomes]
rs67963055	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67971203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808143	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73224201	0.87[EUR][1000 genomes]
rs73226130	0.82[EUR][1000 genomes]
rs7636806	0.82[EUR][1000 genomes]
rs7650075	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7652176	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7625592	IL20RB	cis	Artery Tibial	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136054600-136172000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:136063400-136139000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr3:136063400-136139000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:136063600-136139200	Weak transcription	Pancreas	Pancrea
5	chr3:136069400-136121200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:136069600-136138800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:136069600-136139400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:136069800-136118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:136069800-136159600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:136070800-136121400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:136075000-136137800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:136075800-136160200	Weak transcription	Brain Germinal Matrix	brain
13	chr3:136079400-136174200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:136081200-136118800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:136084400-136123200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:136085800-136139200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:136085800-136174800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:136086000-136128400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr3:136086000-136136000	Weak transcription	HSMM	muscle
20	chr3:136086200-136174800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:136086400-136116800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:136088400-136121200	Weak transcription	Thymus	Thymus
23	chr3:136093200-136117000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:136095600-136117200	Weak transcription	Placenta	Placenta
25	chr3:136095600-136121000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:136095600-136132400	Weak transcription	Left Ventricle	heart
27	chr3:136095600-136132600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr3:136095600-136134400	Weak transcription	Adipose Nuclei	Adipose
29	chr3:136095600-136137800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:136095800-136116600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:136095800-136118800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:136095800-136121200	Weak transcription	Fetal Thymus	thymus
33	chr3:136095800-136122800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:136095800-136131600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:136095800-136135200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr3:136095800-136139200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:136096000-136132800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr3:136096000-136138200	Weak transcription	Lung	lung
39	chr3:136096800-136132600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:136096800-136133800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:136097800-136132000	Weak transcription	Primary T cells from cord blood	blood
42	chr3:136099600-136121400	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:136104400-136132800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:136104800-136122600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:136104800-136134000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:136104800-136139400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:136106000-136139200	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:136107000-136132800	Weak transcription	Fetal Lung	lung
49	chr3:136107000-136132800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr3:136107200-136132800	Weak transcription	Primary B cells from peripheral blood	blood

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