Variant report

Variant	rs6726151
Chromosome Location	chr2:114014701-114014702
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11123173	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12990456	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13001920	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13429413	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1374161	0.80[ASN][1000 genomes]
rs1466018	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1491585	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2863244	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4142815	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849188	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6542127	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6734610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6753216	0.80[ASN][1000 genomes]
rs7560701	0.89[ASN][1000 genomes]
rs895418	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3509221	chr2:114014023-114016282	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
3	esv3509222	chr2:114014023-114016282	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs6726151	AC016683.6	cis	Esophagus Muscularis	GTEx
rs6726151	AC016683.6	cis	Adipose Subcutaneous	GTEx
rs6726151	AC016683.6	cis	Esophagus Mucosa	GTEx
rs6726151	RP11-65I12.1	cis	Esophagus Mucosa	GTEx
rs6726151	LOC654433	Cis_1M	lymphoblastoid	RTeQTL
rs6726151	AC016683.6	cis	Muscle Skeletal	GTEx
rs6726151	PAX8	cis	Esophagus Mucosa	GTEx
rs6726151	AC016683.6	cis	Artery Tibial	GTEx
rs6726151	PAX8	cis	Esophagus Muscularis	GTEx
rs6726151	AC016683.6	cis	lung	GTEx
rs6726151	PAX8	cis	Adipose Subcutaneous	GTEx
rs6726151	AC016683.6	cis	Whole Blood	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113998200-114020600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:113999000-114014800	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:113999600-114016400	Weak transcription	Fetal Stomach	stomach
4	chr2:113999600-114028400	Weak transcription	Ovary	ovary
5	chr2:114002400-114015400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:114006600-114016200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:114006600-114016200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:114006800-114015800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:114007200-114014800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:114007200-114016800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:114008400-114016000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:114009000-114015000	Weak transcription	K562	blood
13	chr2:114009000-114015400	Weak transcription	Left Ventricle	heart
14	chr2:114009200-114015400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:114009800-114019000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:114010000-114016200	Enhancers	Primary T cells from cord blood	blood
17	chr2:114010000-114016200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:114010200-114014800	Weak transcription	Adipose Nuclei	Adipose
19	chr2:114010200-114014800	Weak transcription	Fetal Heart	heart
20	chr2:114010200-114014800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:114010200-114015000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:114010200-114015400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr2:114010200-114015800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:114010200-114030400	Weak transcription	GM12878-XiMat	blood
25	chr2:114010400-114022400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:114011200-114016200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:114012600-114015200	Weak transcription	A549	lung
28	chr2:114012800-114014800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:114013000-114015600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr2:114013000-114016400	Weak transcription	Dnd41	blood
31	chr2:114013200-114015600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:114013200-114016200	Enhancers	HSMMtube	muscle
33	chr2:114013200-114016400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:114013200-114019600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:114013400-114017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:114013400-114018200	Weak transcription	Fetal Kidney	kidney
37	chr2:114013600-114015200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:114013600-114016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:114013600-114020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:114013800-114014800	Weak transcription	Fetal Thymus	thymus
41	chr2:114013800-114014800	Weak transcription	Osteobl	bone
42	chr2:114013800-114016000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:114013800-114016200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:114013800-114016200	Enhancers	Psoas Muscle	Psoas
45	chr2:114013800-114016200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:114013800-114019800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:114014000-114014800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:114014000-114014800	Weak transcription	Lung	lung
49	chr2:114014000-114015000	Weak transcription	HSMM	muscle
50	chr2:114014000-114018400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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