Variant report

Variant	rs1134092
Chromosome Location	chr3:53897100-53897101
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:53895751-53897353	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53896764..53898507-chr3:53915639..53917989,2	K562	blood:

Variant related genes	Relation type
ENSG00000271976	TF binding region
ENSG00000222888	Chromatin interaction
ENSG00000113812	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10440151	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1046677	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1157175	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13072145	0.97[ASN][1000 genomes]
rs13315972	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982172	0.83[EUR][1000 genomes]
rs1992155	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2083127	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276846	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3733073	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3733081	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3816144	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821867	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4569647	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4687757	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4687763	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7624599	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7636856	0.97[ASN][1000 genomes]
rs893367	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9311516	0.97[ASN][1000 genomes]
rs9311518	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9822471	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9840079	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9840362	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9869505	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9878207	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9878562	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs999514	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv876804	chr3:53833509-53934171	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1010575	chr3:53846741-53934781	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv997771	chr3:53852695-53926635	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1002141	chr3:53858541-53934781	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1134092	IL17RB	cis	Artery Tibial	GTEx
rs1134092	SELK	Cis_1M	lymphoblastoid	RTeQTL
rs1134092	ACTR8	cis	Thyroid	GTEx
rs1134092	IL17RB	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53885000-53901000	Weak transcription	Fetal Heart	heart
2	chr3:53886200-53897200	Weak transcription	Colonic Mucosa	Colon
3	chr3:53887800-53898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:53888400-53914600	Weak transcription	Stomach Mucosa	stomach
5	chr3:53889000-53901400	Weak transcription	Esophagus	oesophagus
6	chr3:53889600-53913800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:53890000-53904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:53890400-53898600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:53890400-53898800	Weak transcription	NH-A	brain
10	chr3:53890400-53903600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:53890800-53914600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:53891000-53898000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:53891000-53898000	Weak transcription	Spleen	Spleen
14	chr3:53891000-53914200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:53891000-53914200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr3:53891200-53897800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:53891200-53898600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:53891200-53900800	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:53891200-53910800	Strong transcription	Fetal Stomach	stomach
20	chr3:53891400-53898400	Weak transcription	Small Intestine	intestine
21	chr3:53891400-53914200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:53891600-53897800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr3:53891600-53904000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:53891800-53912800	Strong transcription	Brain Germinal Matrix	brain
25	chr3:53892000-53914400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:53892200-53912400	Strong transcription	Fetal Brain Female	brain
27	chr3:53892200-53914000	Strong transcription	Adipose Nuclei	Adipose
28	chr3:53892200-53914400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:53892200-53914600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:53892400-53899400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr3:53892400-53904800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:53892400-53906200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:53892400-53913000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:53892400-53913800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:53892400-53914200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr3:53892400-53914400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:53892600-53914200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:53892600-53914400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:53892600-53914400	Strong transcription	Fetal Muscle Leg	muscle
40	chr3:53892800-53914200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:53892800-53914200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr3:53892800-53914200	Strong transcription	Thymus	Thymus
43	chr3:53892800-53914400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:53892800-53914600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr3:53893000-53914000	Strong transcription	Placenta	Placenta
46	chr3:53893000-53914400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:53893200-53914000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:53893200-53914200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:53893200-53914200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr3:53893200-53914200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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