Variant report

Variant	rs1867763
Chromosome Location	chr2:114035923-114035924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6744286	0.80[EUR][1000 genomes]
rs7587376	0.80[AMR][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	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv535895	chr2:114015492-114037018	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1867763	PAX8	cis	Esophagus Muscularis	GTEx
rs1867763	AC016683.6	cis	lung	GTEx
rs1867763	PAX8	cis	Nerve Tibial	GTEx
rs1867763	LOC654433	Cis_1M	lymphoblastoid	RTeQTL
rs1867763	AC016683.6	cis	Nerve Tibial	GTEx
rs1867763	PAX8	cis	Artery Tibial	GTEx
rs1867763	AC016683.6	cis	Esophagus Muscularis	GTEx
rs1867763	AC016683.6	cis	Esophagus Mucosa	GTEx
rs1867763	AC016683.6	cis	Whole Blood	GTEx
rs1867763	PAX8	cis	lung	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114023200-114039800	Weak transcription	Gastric	stomach
2	chr2:114031600-114037000	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr2:114033000-114036600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:114033000-114038000	Weak transcription	A549	lung
5	chr2:114033200-114036000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr2:114033400-114036000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:114033400-114036000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr2:114033400-114036400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:114033400-114036400	Bivalent Enhancer	Fetal Brain Male	brain
10	chr2:114033400-114036600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:114033600-114036000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
12	chr2:114033600-114036400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:114033600-114036400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:114033600-114037200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr2:114034000-114036200	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:114034200-114036600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr2:114034200-114036600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:114034400-114036000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr2:114034400-114036000	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr2:114034400-114036200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr2:114034600-114036000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:114034600-114036000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr2:114034600-114036000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:114034600-114036000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:114034600-114036000	Bivalent Enhancer	Fetal Lung	lung
26	chr2:114034600-114036200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:114034600-114036400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
28	chr2:114034800-114036000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr2:114034800-114036800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr2:114035200-114036000	Bivalent Enhancer	Fetal Heart	heart
31	chr2:114035400-114036000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:114035400-114036600	Weak transcription	HepG2	liver
33	chr2:114035600-114036000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:114035600-114036000	Bivalent Enhancer	Brain Germinal Matrix	brain
35	chr2:114035600-114036200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
36	chr2:114035600-114036200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr2:114035600-114037600	Weak transcription	Pancreas	Pancrea
38	chr2:114035800-114036000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
39	chr2:114035800-114036000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:114035800-114036200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:114035800-114036200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:114035800-114036200	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr2:114035800-114036600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:114035800-114039000	Weak transcription	Liver	Liver

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